Lina Basel-Vanagaite

Summary

Affiliation: Tel Aviv University
Country: Israel

Publications

  1. ncbi request reprint Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel and Rabin Medical Center, Petah Tikva, Israel
    Ann Neurol 60:214-22. 2006
  2. ncbi request reprint Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
    Lina Basel-Vanagaite
    Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, 49100, Petah Tikva, Israel
    Hum Genet 133:939-49. 2014
  3. pmc Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
    Lina Basel-Vanagaite
    Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 93:524-9. 2013
  4. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
  5. ncbi request reprint New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Pediatr Dermatol 29:89-95. 2012
  6. pmc Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
    Lina Basel-Vanagaite
    Department of Pediatric Genetics, Schneider Children s Medical Center of Israel, Petah Tikva, Israel
    Am J Hum Genet 90:49-60. 2012
  7. ncbi request reprint Genetics of autosomal recessive non-syndromic mental retardation: recent advances
    L Basel-Vanagaite
    Schneider Children s Medical Center of Israel
    Clin Genet 72:167-74. 2007
  8. ncbi request reprint Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 143:1687-91. 2007
  9. pmc Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel
    Am J Hum Genet 80:467-77. 2007
  10. ncbi request reprint Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Eur J Hum Genet 15:250-3. 2007

Detail Information

Publications48

  1. ncbi request reprint Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel and Rabin Medical Center, Petah Tikva, Israel
    Ann Neurol 60:214-22. 2006
    ..The objective of this study was to identify the gene causing autosomal recessive infantile bilateral striatal necrosis...
  2. ncbi request reprint Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
    Lina Basel-Vanagaite
    Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, 49100, Petah Tikva, Israel
    Hum Genet 133:939-49. 2014
    ..We review the UBE3B-associated phenotypes, including forms that can mimick Toriello-Carey syndrome, and suggest the single designation "Kaufman oculocerebrofacial syndrome". ..
  3. pmc Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
    Lina Basel-Vanagaite
    Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 93:524-9. 2013
    ..We conclude that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies. ..
  4. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
    ..Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals...
  5. ncbi request reprint New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Pediatr Dermatol 29:89-95. 2012
    ..Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings...
  6. pmc Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
    Lina Basel-Vanagaite
    Department of Pediatric Genetics, Schneider Children s Medical Center of Israel, Petah Tikva, Israel
    Am J Hum Genet 90:49-60. 2012
    ..Overexpression of mutant GPD1 in HepG2 cells, in comparison to overexpression of wild-type GPD1, resulted in increased secretion of triglycerides (p = 0.01). This finding supports the pathogenicity of the identified mutation...
  7. ncbi request reprint Genetics of autosomal recessive non-syndromic mental retardation: recent advances
    L Basel-Vanagaite
    Schneider Children s Medical Center of Israel
    Clin Genet 72:167-74. 2007
    ..The future objective will be the development of diagnostic kits for molecular diagnosis in mentally retarded individuals in order to offer at-risk families pre-natal diagnosis to detect affected offspring...
  8. ncbi request reprint Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 143:1687-91. 2007
    ....
  9. pmc Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel
    Am J Hum Genet 80:467-77. 2007
    ..Marked skin hyperkeratosis due to impaired degradation of the stratum corneum corneodesmosomes was observed in the affected individuals, which suggests that matriptase plays a significant role in epidermal desquamation...
  10. ncbi request reprint Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Eur J Hum Genet 15:250-3. 2007
    ..This is the first example of the establishment of a large-scale genetic screening program for autosomal recessive NSMR, which was made possible owing to the high frequency of the specific causative mutation in this isolated population...
  11. doi request reprint Yunis-Varon syndrome: further delineation of the phenotype
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 146:532-7. 2008
    ..We review clinical data on 22 published cases in order to delineate the phenotype of this condition. Clinical recommendations for prenatal and postnatal evaluation of patients and fetuses at risk are discussed...
  12. doi request reprint Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel
    Genet Test 12:53-6. 2008
    ..SMA has a carrier frequency of 1:33-1:60 in most populations and should be considered for inclusion in a population-based genetic-screening program...
  13. doi request reprint Clinical and brain imaging heterogeneity of severe microcephaly
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel, Israel
    Pediatr Neurol 43:7-16. 2010
    ..Classifying patients with microcephaly according to brain imaging findings could enable more accurate counseling of the families with regard to prognosis...
  14. doi request reprint Acute lymphoblastic leukemia in Weaver syndrome
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 152:383-6. 2010
    ..While the presence of acute lymphoblastic leukemia in our patient might be incidental, we cannot exclude a possible causative association between Weaver syndrome and hematologic malignancy...
  15. doi request reprint Familial hydrocephalus with normal cognition and distinctive radiological features
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 152:2743-8. 2010
    ..The rare possibility of autosomal dominant or X-linked dominant inheritance and variable penetrance and expressivity must always be considered in genetic counseling of families with hereditary hydrocephalus...
  16. doi request reprint An emerging 1q21.1 deletion-associated neurodevelopmental phenotype
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    J Child Neurol 26:113-6. 2011
    ..Cryptic cytogenetic abnormalities should be considered in patients with neurodevelopmental problems and atypical presentation of epilepsy with a normal electroencephalography (EEG)...
  17. pmc Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    J Med Genet 40:729-32. 2003
    ..To identify and clinically evaluate four consanguineous families of Israeli Arab origin with non-syndromic mental retardation (NSMR), comprising a total of 10 affected and 24 unaffected individuals...
  18. ncbi request reprint Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Eur J Hum Genet 15:242-5. 2007
    ....
  19. ncbi request reprint Amniotic trisomy 11 mosaicism--is it a benign finding?
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel
    Prenat Diagn 26:778-81. 2006
    ..A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed...
  20. ncbi request reprint Expanding the phenotypic spectrum of L1CAM-associated disease
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Clin Genet 69:414-9. 2006
    ....
  21. pmc The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Centre, Beilinson Campus, Petah Tikva 49100, Israel
    J Med Genet 43:203-10. 2006
    ..Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family...
  22. ncbi request reprint Infantile bilateral striatal necrosis maps to chromosome 19q
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100, Israel
    Neurology 62:87-90. 2004
    ..Autosomal recessive IBSN is characterized clinically by developmental arrest beginning at age 7 to 15 months, dysphagia, choreoathetosis, pendular nystagmus and optic atrophy, and severe progressive atrophy of the basal ganglia on MRI...
  23. ncbi request reprint New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel
    Am J Med Genet A 119:200-6. 2003
    ..Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome...
  24. ncbi request reprint Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet 113:78-81. 2002
    ..We suggest that these findings comprise a new entity of combined branchio-oto and cardio-digital developmental field abnormalities, which we termed branchio-oto-cardio-skeletal syndrome. The pattern of inheritance remains uncertain...
  25. doi request reprint Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12
    Ayelet Halevy
    Department of Pediatric Neurology and Child Development, Schneider Children s Medical Center of Israel, Petah Tikva, Israel
    Pediatr Neurol 46:363-8. 2012
    ..Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition...
  26. doi request reprint X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
    Daphna Marom
    Pediatrics A, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    Am J Med Genet A 155:1959-63. 2011
    ..23-p21, establishing linkage to chromosome X. This study further confirms genetic heterogeneity in Triple A syndrome and points to a clinically different subtype including significant cognitive impairment...
  27. doi request reprint Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
    Gal Maydan
    Department of Internal Medicine D, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel
    J Med Genet 48:383-9. 2011
    ....
  28. pmc RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome
    Lina Basel-Vanagaite
    Schneider Children s Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel
    Am J Hum Genet 85:254-63. 2009
    ..RIN2 deficiency was found to be associated with paucity of dermal microfibrils and deficiency of fibulin-5, which may underlie the abnormal skin phenotype displayed by the patients...
  29. ncbi request reprint Familial cognitive impairment with ataxia with oculomotor apraxia
    Muhammad Mahajnah
    Neurogenetic Clinic, Schneider Children s Medical Center of Israel, Petah Tiqwa, Israel
    J Child Neurol 20:523-5. 2005
    ..3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1...
  30. pmc Genotype-phenotype correlation in 22q11.2 deletion syndrome
    Elena Michaelovsky
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    BMC Med Genet 13:122. 2012
    ..We explored the genotype-phenotype relationship in a relatively large 22q11.2DS cohort treated and monitored in our clinic using comprehensive clinical evaluation and detailed molecular characterization of the deletion...
  31. pmc SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system
    Efrat Birk
    Tel Aviv University, Israel
    Am J Hum Genet 87:694-700. 2010
    ..5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans...
  32. pmc Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
    Nitza Goldenberg-Cohen
    The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Schneider Children s Medical Center, Beilinson Campus, Petah Tikva, Israel
    Mol Vis 19:1565-71. 2013
    ..RP can appear as either syndromic or nonsyndromic. One of the most common forms of syndromic RP is Usher syndrome, characterized by the combination of RP, hearing loss, and vestibular dysfunction...
  33. doi request reprint Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?
    Vered Shkalim
    Neurogenetic Clinic and Child Neurology Unit, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    Am J Med Genet A 155:1060-5. 2011
    ..We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition...
  34. doi request reprint Psychiatric morbidity with focus on obsessive-compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation
    Doron Gothelf
    The Behavioral Neurogenetics Center, Feinberg Department of Child Psychiatry, Schneider Children s Medical Center of Israel, Petah Tikva, Israel
    J Neural Transm 115:929-36. 2008
    ..Further studies are required in adolescents with mental retardation to better delineate psychiatric morbidities and their appropriate treatment in this at-risk population...
  35. doi request reprint Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment
    Tamar Green
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Am J Med Genet B Neuropsychiatr Genet 159:13-20. 2012
    ..The present study further elucidates the neuropsychiatric phenotype of WS. Our results also suggest that MPH treatment for ADHD in WS warrants future prospective controlled trials...
  36. ncbi request reprint Autosomal dominant isolated question mark ear
    Vered Shkalim
    Schneider Children s Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel
    Am J Med Genet A 146:2280-3. 2008
    ..The family history revealed a similar abnormality in her father and paternal grandfather. The similarity of the Question mark ear to the ear abnormalities described in auriculo-condylar syndrome (ACS) is discussed...
  37. doi request reprint Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus
    Hadassa Goldberg-Stern
    1Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    J Child Neurol 29:221-6. 2014
    ..We suggest that families with extreme phenotype distributions can represent prime candidates for the identification of genetic or environmental modifiers. ..
  38. ncbi request reprint Fetal alcohol spectrum disorder in Israel
    Yehuda Senecky
    Child Development and Rehabilitation Institute, Schneider Children s Medical Center of Israel, Petah Tikva, Israel
    Isr Med Assoc J 11:619-22. 2009
    ..FASD is the leading cause of preventable mental retardation and developmental disability in the United States, with an incidence of 1-10 per 1000 live births. FASD in Israel has yet to be examined systematically...
  39. pmc Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency
    Doron M Behar
    Raphael Recanati Genetics Institute, Schneider Children s Medical Center of Israel, Rabin Medical Center, Petah Tikva, Israel
    J Lipid Res 55:307-12. 2014
    ..Although the role of PNLIP is well established, our observations provide genetic evidence that PNLIP mutations are causative for this phenotype...
  40. ncbi request reprint Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
    Bernard S Chang
    Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Ann Neurol 53:596-606. 2003
    ..Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed...
  41. ncbi request reprint G protein-coupled receptor-dependent development of human frontal cortex
    Xianhua Piao
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Science 303:2033-6. 2004
    ..BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex...
  42. pmc An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21
    Xianhua Piao
    Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 70:1028-33. 2002
    ..98, and the maximal multipoint LOD score was 4.57. This study provides the first genetic evidence that BFPP is an autosomal recessive disorder and serves as a starting point for the identification of the responsible gene...
  43. ncbi request reprint Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA
    Brain Dev 26:326-34. 2004
    ..Affected individuals have severe developmental delay and may have radiographic findings of hydrocephalus...
  44. ncbi request reprint De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
    Lieve Claes
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation, University of Antwerp UIA, Antwerpen, Belgium
    Hum Mutat 21:615-21. 2003
    ..In contrast to our previous study, most mutations are missense mutations clustering in the S4-S6 region of SCN1A. These findings demonstrate that de novo mutations in SCN1A are a major cause of isolated SMEI...
  45. ncbi request reprint An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome
    Ebun Aganna
    MRCPI Barts and the London, Queen Mary s School of Medicine and Dentistry, University of London, UK
    Arthritis Rheum 46:245-9. 2002
    ..To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease...
  46. ncbi request reprint Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
    Bernward Hinkes
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 38:1397-405. 2006
    ..These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotic syndrome...
  47. doi request reprint Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
    Lina Basel-Vanagaite
    Haematologica 93:943-4. 2008
  48. ncbi request reprint Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    Monique M P Hermans
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 23:47-56. 2004
    ..This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease...