E A Eugster

Summary

Affiliation: Indiana University
Country: USA

Publications

  1. ncbi request reprint Aromatase inhibitors in precocious puberty: rationale and experience to date
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Treat Endocrinol 3:141-51. 2004
  2. pmc Results of a second year of therapy with the 12-month histrelin implant for the treatment of central precocious puberty
    Samar Rahhal
    Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Int J Pediatr Endocrinol 2009:812517. 2009
  3. ncbi request reprint Position statement: Continuous subcutaneous insulin infusion in very young children with type 1 diabetes
    Erica A Eugster
    Section of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Pediatrics 118:e1244-9. 2006
  4. ncbi request reprint Definitive diagnosis in children with congenital hypothyroidism
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 144:643-7. 2004
  5. ncbi request reprint Reality vs recommendations in the care of infants with intersex conditions
    Erica A Eugster
    Pediatric Endocrinology, Riley Hospital, Indianapolis, IN 46202, USA
    Arch Pediatr Adolesc Med 158:428-9. 2004
  6. doi request reprint Peripheral precocious puberty: causes and current management
    Erica A Eugster
    Section of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Ind, USA
    Horm Res 71:64-7. 2009
  7. ncbi request reprint Efficacy and safety of histrelin subdermal implant in children with central precocious puberty: a multicenter trial
    Erica A Eugster
    Pediatric Endocrinology, Riley Hospital for Children, Indiana Uniuversity School of Medicine, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    J Clin Endocrinol Metab 92:1697-704. 2007
  8. ncbi request reprint Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
    Erica A Eugster
    James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 143:60-6. 2003
  9. ncbi request reprint Low hemoglobin levels in children with in idiopathic growth hormone deficiency
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis 46202, USA
    Endocrine 18:135-6. 2002
  10. ncbi request reprint GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty
    Heather A Wagoner
    Department of Pediatrics, Division of Endocrinology, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh PA 15213 2524, USA
    Pediatr Endocrinol Rev 4:395-400. 2007

Collaborators

Detail Information

Publications50

  1. ncbi request reprint Aromatase inhibitors in precocious puberty: rationale and experience to date
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Treat Endocrinol 3:141-51. 2004
    ..The wider application of aromatase inhibitors for the purposes of delaying skeletal maturation and increasing adult height in several conditions leading to short stature is currently a subject of intense investigation...
  2. pmc Results of a second year of therapy with the 12-month histrelin implant for the treatment of central precocious puberty
    Samar Rahhal
    Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Int J Pediatr Endocrinol 2009:812517. 2009
    ..Prospective follow-up of this therapeutic modality for the treatment of CPP is needed...
  3. ncbi request reprint Position statement: Continuous subcutaneous insulin infusion in very young children with type 1 diabetes
    Erica A Eugster
    Section of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Pediatrics 118:e1244-9. 2006
    ....
  4. ncbi request reprint Definitive diagnosis in children with congenital hypothyroidism
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 144:643-7. 2004
    ..To investigate the definitive diagnosis and underlying causes of congenital hypothyroidism (CH) in eligible children through the use of a standardized protocol...
  5. ncbi request reprint Reality vs recommendations in the care of infants with intersex conditions
    Erica A Eugster
    Pediatric Endocrinology, Riley Hospital, Indianapolis, IN 46202, USA
    Arch Pediatr Adolesc Med 158:428-9. 2004
  6. doi request reprint Peripheral precocious puberty: causes and current management
    Erica A Eugster
    Section of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Ind, USA
    Horm Res 71:64-7. 2009
    ..Causes of PPP range from well-characterized genetic mutations to those conditions without a known etiology (idiopathic). Medical evaluation and treatment of affected children is guided by the presenting features and ultimate diagnosis...
  7. ncbi request reprint Efficacy and safety of histrelin subdermal implant in children with central precocious puberty: a multicenter trial
    Erica A Eugster
    Pediatric Endocrinology, Riley Hospital for Children, Indiana Uniuversity School of Medicine, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    J Clin Endocrinol Metab 92:1697-704. 2007
    ..GnRH analog (GnRHa) therapy for central precocious puberty (CPP) typically involves im injections. The histrelin implant is a new treatment that provides a continuous slow release of the GnRHa histrelin...
  8. ncbi request reprint Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
    Erica A Eugster
    James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 143:60-6. 2003
    ..We undertook a 1-year multicenter trial of tamoxifen treatment for precocious puberty in girls with McCune-Albright syndrome (MAS)...
  9. ncbi request reprint Low hemoglobin levels in children with in idiopathic growth hormone deficiency
    Erica A Eugster
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis 46202, USA
    Endocrine 18:135-6. 2002
    ..Hemoglobin levels were decreased in children with GH deficiency compared with age-corrected norms...
  10. ncbi request reprint GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty
    Heather A Wagoner
    Department of Pediatrics, Division of Endocrinology, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh PA 15213 2524, USA
    Pediatr Endocrinol Rev 4:395-400. 2007
    ..e. in partial forms of MAS. The utility of using peripheral blood for mutation analysis in this setting has not been thoroughly evaluated...
  11. ncbi request reprint Current concepts in normal and abnormal puberty
    Todd D Nebesio
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Curr Probl Pediatr Adolesc Health Care 37:50-72. 2007
  12. ncbi request reprint Monozygotic twins with Turner syndrome develop slipped capital femoral epiphysis on growth hormone therapy
    Zeina M Nabhan
    Section of Pediatric Endocrinology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Pediatrics 118:e1900-3. 2006
    ..In addition, the association between slipped capital femoral epiphysis, growth hormone therapy, and Turner syndrome is emphasized...
  13. ncbi request reprint Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia
    Zeina M Nabhan
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Pediatrics 120:e304-7. 2007
    ..The objective of this study was to determine the incidence, specific abnormalities, and clinical significance of upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia...
  14. ncbi request reprint Oophorectomy in McCune-Albright syndrome: a case of mistaken identity
    Zeina M Nabhan
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    J Pediatr Surg 42:1578-83. 2007
    ..The objective of the study was to determine the incidence of oophorectomy in girls presenting with precocious puberty and vaginal bleeding who are subsequently diagnosed with McCune-Albright syndrome (MAS)...
  15. ncbi request reprint Development of pulmonary hypertension in an infant treated with diazoxide
    Todd D Nebesio
    Department of Pediatrics, Sections of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    J Pediatr Endocrinol Metab 20:939-44. 2007
    ..Lung biopsy revealed a probable toxic vascular drug reaction. After discontinuing diazoxide, her clinical status improved and eventually returned to baseline...
  16. doi request reprint Newborn screening results in children with central hypothyroidism
    Todd D Nebesio
    Indiana University School of Medicine, Department of Pediatrics, Riley Hospital for Children, Indianapolis, IN 46202, USA
    J Pediatr 156:990-3. 2010
    ....
  17. ncbi request reprint Treatment of precocious puberty in McCune-Albright syndrome
    Jakub Mieszczak
    Department of Pediatrics, Section of Endocrinology Diabetology, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Room 5960, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    Pediatr Endocrinol Rev 4:419-22. 2007
    ..We will discuss current pharmacotherapy options for the treatment of PP in MAS and finally describe potential novel therapies that will hopefully enable optimal care for affected patients...
  18. ncbi request reprint Combined central precocious puberty and primary gonadal failure after treatment of childhood malignancy in two boys: a diagnostic and therapeutic conundrum
    Zeina M Nabhan
    Section of Pediatric Endocrinology Diabetology, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 157:507-9. 2010
    ..Here we report two boys with coexistent central precocious puberty and primary gonadal failure after treatment for childhood malignancies...
  19. ncbi request reprint The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome
    Jakub Mieszczak
    James Whitcomb Riley Hospital for Children, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    J Clin Endocrinol Metab 93:2751-4. 2008
    ..Some patients experience frequent bleeding as well as accelerated linear growth and advanced skeletal maturation. The use of anastrozole for the treatment of PP in this condition has not been well studied...
  20. doi request reprint A randomized prospective study of insulin pump vs. insulin injection therapy in very young children with type 1 diabetes: 12-month glycemic, BMI, and neurocognitive outcomes
    Zeina M Nabhan
    Section of Pediatric Endocrinology and Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Pediatr Diabetes 10:202-8. 2009
    ....
  21. ncbi request reprint Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child
    Todd D Nebesio
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    J Pediatr Endocrinol Metab 22:263-8. 2009
    ..Issues pertaining to thyroid hemiagenesis, autoimmune hyperthyroidism, and thyroid disease in children with Down's syndrome are discussed...
  22. pmc Experience with the once-yearly histrelin (GnRHa) subcutaneous implant in the treatment of central precocious puberty
    Katherine A Lewis
    Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    Drug Des Devel Ther 3:1-5. 2009
    ..While long term studies are needed to establish continued efficacy and safety beyond 2 years of treatment, the histrelin implant appears to be an attractive option for GnRHa treatment in patients with CPP...
  23. ncbi request reprint Etiology and treatment of hypogonadism in adolescents
    Vidhya Viswanathan
    Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, 46202, USA
    Endocrinol Metab Clin North Am 38:719-38. 2009
    ..Whereas some conditions are clearly delineated, the exact etiology and underlying pathogenesis of many disorders is unknown...
  24. ncbi request reprint Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report
    Todd D Nebesio
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Endocrine 30:279-82. 2006
    ..The coexistence of HTN with a salt-wasting state and mineralocorticoid deficiency in some children with 21OHD is paradoxical and of unclear etiology...
  25. ncbi request reprint Preschoolers are not miniature adolescents: a comparison of insulin pump doses in two groups of children with type 1 diabetes mellitus
    Linda A DiMeglio
    Pediatric Endocrinology and Diabetology, Riley Hospital, Indianapolis, IN 46208, USA
    J Pediatr Endocrinol Metab 17:865-70. 2004
    ..Recognizing these variations is essential for safe and efficacious use of CSII in preschoolers with DM1...
  26. ncbi request reprint A randomized, controlled study of insulin pump therapy in diabetic preschoolers
    Linda A DiMeglio
    Pediatric Endocrinology and Diabetology, Indiana University, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    J Pediatr 145:380-4. 2004
    ..To compare glycemic control, safety, and parental satisfaction in preschool-aged diabetic children randomized to treatment either with continuous subcutaneous insulin infusion (CSII) or intensive insulin injection therapy...
  27. doi request reprint Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study
    Zeina M Nabhan
    Section of Pediatric Endocrinology Diabetology, Indiana University School of Medicine, Riley Hospital for Children, 702 Barnhill Drive, Room 5960, Indianapolis, Indiana 46202, USA
    J Clin Endocrinol Metab 94:2009-14. 2009
    ..The optimal route of estrogen replacement in Turner syndrome (TS) is unknown...
  28. ncbi request reprint The use of tamoxifen to improve height potential in short pubertal boys
    Nerissa C Kreher
    Section of Pediatric Endocrinology and Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Pediatrics 116:1513-5. 2005
    ..Additional evaluation of this therapy is now required to determine if the increase in predicted adult height results in a clinically significant increase in final adult height...
  29. ncbi request reprint Pubic hair of infancy: endocrinopathy or enigma?
    Todd D Nebesio
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Pediatrics 117:951-4. 2006
    ..However, long-term follow-up needs to be done to determine if pubic hair of infancy is an atypical variant of premature adrenarche, which may place these patients at risk for later adult disease...
  30. ncbi request reprint Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?
    Tamara S Hannon
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA
    J Pediatr 142:532-8. 2003
    ..Our objective was to prospectively screen subjects with fibrous dysplasia for endocrine disease and G(s)alpha gene (GNAS1 )-activating mutations...
  31. ncbi request reprint Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutations
    Tamara S Hannon
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis 46202, USA
    J Pediatr Endocrinol Metab 15:891-5. 2002
    ..In contrast, polymorphisms of the FSH receptor are common...
  32. ncbi request reprint Urinary tract infections in children with congenital adrenal hyperplasia
    Zeina M Nabhan
    Section of Pediatric Endocrinology and Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis 46202, USA
    J Pediatr Endocrinol Metab 19:815-20. 2006
    ..To investigate the incidence of urinary tract infections (UTIs) in children with congenital adrenal hyperplasia (CAH), and to determine whether there was a correlation between UTIs and the timing and type of genital surgery in girls...
  33. ncbi request reprint Prevalence of adrenocorticotropin deficiency in children with idiopathic growth hormone deficiency
    Emily C Walvoord
    Department of Pediatrics, Section of Endocrinology and Diabetology, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana 46202, USA
    J Clin Endocrinol Metab 89:5030-4. 2004
    ....
  34. ncbi request reprint Differential expression of GRK isoforms in nonmalignant and malignant human granulosa cells
    Denise Walker King
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, Physiology and Biophysics, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Endocrine 22:135-42. 2003
    ..These findings suggest that GRK protein expression is altered in GCTs and may be involved in the pathogenesis of these tumors...
  35. ncbi request reprint Thyroid stimulating immunoglobulin is often negative in children with Graves' disease
    Samar N Rahhal
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, IN 46260, USA
    J Pediatr Endocrinol Metab 21:1085-8. 2008
    ..While TSI is reported to be positive in >90% of patients with GD, our anecdotal experience suggests that TSI negative GD may be more common in children...
  36. ncbi request reprint Hashitoxicosis in children: clinical features and natural history
    Zeina M Nabhan
    Department of Pediatric Endocrinology, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, 702 Barnhill Drive, Indianapolis, IN 46202, USA
    J Pediatr 146:533-6. 2005
    ..To determine the incidence, natural history, and clinical characteristics of Hashitoxicosis (Htx) in pediatric patients with autoimmune thyroiditis...
  37. ncbi request reprint Time course to hypothyroidism after fixed-dose radioablation therapy of Graves' disease in children
    Todd D Nebesio
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA
    J Pediatr 141:99-103. 2002
    ..To characterize the development of hypothyroidism in pediatric patients who receive a fixed dose of radioactive iodine (RAI)...
  38. ncbi request reprint Predictors of glycemic control on insulin pump therapy in children and adolescents with type I diabetes
    Zeina M Nabhan
    Section of Pediatric Endocrinology and Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA
    Diabetes Res Clin Pract 74:217-21. 2006
    ..To determine variables predictive of glycemic control in a large population of pediatric patients with type 1 diabetes on continuous subcutaneous insulin infusion (CSII)...
  39. ncbi request reprint New revelations about the role of STATs in stature
    Erica A Eugster
    Section of Pediatric Endocrinology and Diabetology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, USA
    N Engl J Med 349:1110-2. 2003
  40. doi request reprint Unexpected recovery of ovarian function many years after bone marrow transplantation
    Samar N Rahhal
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA
    J Pediatr 152:289-90. 2008
    ..We report spontaneous recovery of ovarian function occurring 8 years after bone marrow transplantation in a girl with history of leukemia and growth hormone deficiency. Clinical management challenges are discussed...
  41. ncbi request reprint Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia
    Nadine G Haddad
    Department of Pediatrics, Section of Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, IN, USA
    J Pediatr Endocrinol Metab 18:853-8. 2005
    ..The correlation of variable CNS abnormalities with the presence of a seizure disorder and neurodevelopmental delay was also examined...
  42. ncbi request reprint Turner syndrome (45x) with clitoromegaly
    Nadine G Haddad
    Department of Pediatrics, Section of Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, USA
    J Urol 170:1355-6. 2003
  43. ncbi request reprint Giant cell fibroblastoma masquerading as prepubertal gynecomastia
    Todd D Nebesio
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, James Whitcomb Riley Hospital for Children, Indianapolis, IN 46202, USA
    Clin Pediatr (Phila) 44:355-7. 2005
  44. ncbi request reprint Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series
    Inessa M Gelfand
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    J Pediatr 149:877-880. 2006
    ..Temporal trends in stimulatory hormone resistance included early thyroid-stimulating hormone elevation and progression from parathyroid hormone elevation to hyperphosphatemia and hypocalcemia...
  45. doi request reprint Use of aromatase inhibitors in children and adolescents with disorders of growth and adolescent development
    Dorothy I Shulman
    All Children s Hospital, St Petersburg, Florida 33701, USA
    Pediatrics 121:e975-83. 2008
    ..In this report, we summarize the published data regarding the use of aromatase inhibitors in these conditions, and review known and potential benefits, safety concerns, and shortcomings of the available information...
  46. ncbi request reprint Initial management of infants with intersex conditions in a tertiary care center: a cautionary tale
    Erica A Eugster
    J Pediatr Endocrinol Metab 19:191-2. 2006
  47. ncbi request reprint Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age
    Patricia Y Fechner
    Division of Pediatric Endocrinology, Stanford University, California 94305 5208, USA
    J Clin Endocrinol Metab 91:4896-902. 2006
    ..Little information exists regarding FSH values in very young girls with Turner syndrome (TS)...
  48. ncbi request reprint Infancy-onset cystic fibrosis-related diabetes
    Inessa M Gelfand
    Diabetes Care 28:2593-4. 2005
  49. ncbi request reprint Bisphosphonate treatment of pediatric bone disease
    Phyllis W Speiser
    Schneider Children s Hospital and New York University School of Medicine, New Hyde Park, NY 11040, USA
    Pediatr Endocrinol Rev 3:87-96. 2005
    ....
  50. ncbi request reprint We used to call them hermaphrodites
    Eric Vilain
    Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California 90095 7088, USA
    Genet Med 9:65-6. 2007