dwarfism

Summary

Summary: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.

Top Publications

  1. Nakanishi T, Yamaai T, Asano M, Nawachi K, Suzuki M, Sugimoto T, et al. Overexpression of connective tissue growth factor/hypertrophic chondrocyte-specific gene product 24 decreases bone density in adult mice and induces dwarfism. Biochem Biophys Res Commun. 2001;281:678-81 pubmed
    ..Tg mice could develop and their embryonic and neonatal growth occurred normally. But they showed dwarfism within a few months of birth...
  2. Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K. 3-M syndrome in two sisters. J Paediatr Child Health. 2002;38:419-22 pubmed
    ..In addition, they presented with small nails and abnormal dermatoglyphics. The present report expands the phenotypic spectrum of 3-M syndrome...
  3. Weston E, Lister A. Insular dwarfism in hippos and a model for brain size reduction in Homo floresiensis. Nature. 2009;459:85-8 pubmed publisher
    ..However, this trend has been questioned in the special case of dwarfism of mammals on islands...
  4. Murphy R, Baptista J, Holly J, Umpleby A, Ellard S, Harries L, et al. Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab. 2008;93:4373-80 pubmed publisher
    ..In mice, enhancers of the IGF2 gene are located up to 260 kb telomeric to the gene. The role of IGF-II in humans is unclear...
  5. Goldstein O, Guyon R, KUKEKOVA A, Kuznetsova T, Pearce Kelling S, Johnson J, et al. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome. 2010;21:398-408 pubmed publisher
    ..Affected dogs exhibit short-limbed dwarfism and severe ocular defects...
  6. Kano K, Marin de Evsikova C, Young J, Wnek C, Maddatu T, Nishina P, et al. A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse. Mol Endocrinol. 2008;22:1866-80 pubmed publisher
    ..Taken together, our results indicate that the absence of DDR2 leads to growth retardation and gonadal dysfunction due to peripheral defects in hormonal-responsive pathways in slie mice...
  7. Back W, van der Lugt J, Nikkels P, van den Belt A, van der Kolk J, Stout T. Phenotypic diagnosis of dwarfism in six Friesian horses. Equine Vet J. 2008;40:282-7 pubmed publisher
    An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses...
  8. Rothenbuhler A, Linglart A, Piquard C, Bougneres P. A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. J Pediatr. 2012;160:849-53 pubmed publisher
    ..To assess the growth promoting effect of a recombinant growth hormone (rGH) treatment protocol adjusted on insulin-like growth factor 1 (IGF-1) dosing in children affected by the most severe forms of FGFR3 N540K-mutated hypochondroplasia...
  9. Bober M, Khan N, Kaplan J, Lewis K, Feinstein J, Scott C, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010;152A:960-5 pubmed publisher
    Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder...

More Information

Publications67

  1. Koltes J, Mishra B, Kumar D, Kataria R, Totir L, Fernando R, et al. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle. Proc Natl Acad Sci U S A. 2009;106:19250-5 pubmed publisher
    Historically, dwarfism was the major genetic defect in U.S. beef cattle. Aggressive culling and sire testing were used to minimize its prevalence; however, neither of these practices can eliminate a recessive genetic defect...
  2. Waldron J, Hetts S, Armstrong Wells J, Dowd C, Fullerton H, Gupta N, et al. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. J Neurosurg Pediatr. 2009;4:439-44 pubmed publisher
    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya ..
  3. Al Dosari M, Shaheen R, Colak D, Alkuraya F. Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010;47:411-4 pubmed publisher
    BACKGROUND Primordial dwarfism (PD) is an extremely rare, clinicallyheterogeneous condition characterised by profound prenatal and postnatal growth restriction among other manifestations that are helpful in the clinical classification...
  4. Hautier L, Fabre P, Michaux J. Mandible shape and dwarfism in squirrels (Mammalia, Rodentia): interaction of allometry and adaptation. Naturwissenschaften. 2009;96:725-30 pubmed publisher
    ..To interpret such a difference, Elliptic Fourier Transform was used to evaluate how mandible shape varies with dwarfism in sciurids...
  5. Rauch A, Thiel C, Schindler D, Wick U, Crow Y, Ekici A, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008;319:816-9 pubmed publisher
    ..3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients...
  6. Fitzgerald B, O Driscoll M, Chong K, Keating S, Shannon P. Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Brain Dev. 2012;34:238-43 pubmed publisher
    Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation...
  7. Pierce M, Morse R. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. Am J Med Genet A. 2012;158A:606-10 pubmed publisher
    Taybi-Linder syndrome, also known as microcephalic osteodysplastic primordial dwarfism types I and III, is a rare disorder with presumed autosomal recessive inheritance...
  8. Cavanagh J, Tammen I, Windsor P, Bateman J, Savarirayan R, Nicholas F, et al. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome. 2007;18:808-14 pubmed
    Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia)...
  9. Abdel Salam G, Miyake N, Eid M, Abdel Hamid M, Hassan N, Eid O, et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A. 2011;155A:2885-96 pubmed publisher
    The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia...
  10. Ranke M, Wölfle J, Schnabel D, Bettendorf M. Treatment of dwarfism with recombinant human insulin-like growth factor-1. Dtsch Arztebl Int. 2009;106:703-9 pubmed publisher
    ..In primary disturbances of IGF-1 production, short stature can only be treated with recombinant human IGF-1 (rhIGF-1). rhIGF-1 was recently approved for this indication but can also be used to treat other conditions...
  11. López Herráez D, Bauchet M, Tang K, Theunert C, Pugach I, Li J, et al. Genetic variation and recent positive selection in worldwide human populations: evidence from nearly 1 million SNPs. PLoS ONE. 2009;4:e7888 pubmed publisher
    ..Moreover, genome-wide data can be used to search for signals of recent positive selection, thereby providing new insights into the genetic adaptations that occurred as modern humans spread out of Africa and around the world...
  12. Palya V, Zolnai A, Benyeda Z, Kovács E, Kardi V, Mato T. Short beak and dwarfism syndrome of mule duck is caused by a distinct lineage of goose parvovirus. Avian Pathol. 2009;38:175-80 pubmed publisher
    From the early 1970s to the present, numerous cases of short beak and dwarfism syndrome (SBDS) have been reported in mule ducks from France. The animals showed strong growth retardation with smaller beak and tarsus...
  13. Albertsson Wikland K, Aronson A, Gustafsson J, Hagenäs L, Ivarsson S, Jonsson B, et al. Dose-dependent effect of growth hormone on final height in children with short stature without growth hormone deficiency. J Clin Endocrinol Metab. 2008;93:4342-50 pubmed publisher
    ..The effect of GH therapy in short non-GH-deficient children, especially those with idiopathic short stature (ISS), has not been clearly established owing to the lack of controlled trials continuing until final height (FH)...
  14. Bicknell L, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43:350-5 pubmed publisher
    ..into disorders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular processes of DNA damage response signaling and centrosome function ..
  15. Delaval B, Doxsey S. Genetics. Dwarfism, where pericentrin gains stature. Science. 2008;319:732-3 pubmed publisher
  16. Harsha Vardhan B, Muthu M, Saraswathi K, Koteeswaran D. Bird-headed dwarf of Seckel. J Indian Soc Pedod Prev Dent. 2007;25 Suppl:S8-9 pubmed
    ..Growth delays continue after birth resulting in short stature (dwarfism)...
  17. Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab. 2011;25:125-30 pubmed publisher
    Microcephalic or Majewski's osteodysplastic primordial dwarfism type II (MOPD II) represents the most common type of primordial dwarfism...
  18. Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009;149A:2452-6 pubmed publisher
    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel ..
  19. Klingseisen A, Jackson A. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011;25:2011-24 pubmed publisher
    ..Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, ..
  20. Frischknecht M, Niehof Oellers H, Jagannathan V, Owczarek Lipska M, Drogemuller C, Dietschi E, et al. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS ONE. 2013;8:e60149 pubmed publisher
    We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2)...
  21. Furuichi T, Dai J, Cho T, Sakazume S, Ikema M, Matsui Y, et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet. 2011;48:32-7 pubmed publisher
    ..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
  22. Juric Sekhar G, Kapur R, Glass I, Murray M, Parnell S, Hevner R. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathol. 2011;121:545-54 pubmed publisher
    Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types...
  23. Stein K, Csiki Z, Rogers K, Weishampel D, Redelstorff R, Carballido J, et al. Small body size and extreme cortical bone remodeling indicate phyletic dwarfism in Magyarosaurus dacus (Sauropoda: Titanosauria). Proc Natl Acad Sci U S A. 2010;107:9258-63 pubmed publisher
    ..The diminutive M. dacus was a classical example of island dwarfism (phyletic nanism) in dinosaurs, but a recent study suggested that the small Romanian titanosaurs actually ..
  24. Kalay E, Yigit G, Aslan Y, Brown K, Pohl E, Bicknell L, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011;43:23-6 pubmed publisher
  25. Miyoshi K, Kasahara K, Miyazaki I, Shimizu S, Taniguchi M, Matsuzaki S, et al. Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice. FASEB J. 2009;23:3289-97 pubmed publisher
    ..in vivo function of pericentrin, a well-studied mammalian centrosomal protein related to microcephalic primordial dwarfism, has been unclear...
  26. Hanson D, Murray P, O Sullivan J, Urquhart J, Daly S, Bhaskar S, et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet. 2011;89:148-53 pubmed publisher
    ..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
  27. Muñoz Hoyos A, Molina Carballo A, Augustin Morales M, Contreras Chova F, Naranjo Gómez A, Justicia Martínez F, et al. Psychosocial dwarfism: psychopathological aspects and putative neuroendocrine markers. Psychiatry Res. 2011;188:96-101 pubmed publisher
    ..These data suggest that the AD syndrome and NOFT comprise a single process, but one with a different evolutionary continuum of psychosocial dwarfism.
  28. Dai J, Kim O, Cho T, Schmidt Rimpler M, Tonoki H, Takikawa K, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet. 2010;47:704-9 pubmed publisher
    ..Only a total of seven missense mutations were detected, however. The full spectrum of TRPV4 mutations and their phenotypes remained unclear...
  29. Blumbach K, Niehoff A, Belgardt B, Ehlen H, Schmitz M, Hallinger R, et al. Dwarfism in mice lacking collagen-binding integrins ?2?1 and ?11?1 is caused by severely diminished IGF-1 levels. J Biol Chem. 2012;287:6431-40 pubmed publisher
    ..These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life...
  30. Kohler M, Moyà Solà S, Wrangham R. Island rules cannot be broken. Trends Ecol Evol. 2008;23:6-7; author reply 8-9 pubmed
  31. Shaheen R, Faqeih E, Shamseldin H, Noche R, Sunker A, Alshammari M, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91:330-6 pubmed publisher
    Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset...
  32. Alazami A, Al Owain M, Alzahrani F, Shuaib T, Al Shamrani H, Al Falki Y, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012;33:1429-34 pubmed publisher
    Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition...
  33. Hanson D, Murray P, Coulson T, Sud A, Omokanye A, Stratta E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012;49:267-75 pubmed publisher
    ..Dysregulation of the GH-IGF-IGF binding protein axis is a feature of 3-M syndrome...
  34. Shaheen R, Faqeih E, Ansari S, Abdel Salam G, Al Hassnan Z, Al Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014;24:291-9 pubmed publisher
    Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size...
  35. Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010;47:797-802 pubmed publisher
    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short ..
  36. Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A. 2007;143A:2512-22 pubmed
    ..Intellectual outcome in all surviving cases has been normal. Final adult heights ranged from 107 to 135 cm...
  37. Bober M, Niiler T, Duker A, Murray J, Ketterer T, Harley M, et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A. 2012;158A:2719-25 pubmed publisher
    Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly...
  38. Engel M, Castrillon Oberndorfer G, Hoffmann J, Egermann M, Freudlsperger C, Thiele O. Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. J Craniofac Surg. 2012;23:1407-9 pubmed
    ..the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis...
  39. Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012;8:e1002945 pubmed publisher
    ..also displayed by several related disorders including Majewski (microcephalic) osteodysplastic primordial dwarfism (MOPD) type II and Meier-Gorlin Syndrome (MGS)...
  40. Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen Kaesbach G, Haan E, et al. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2012;82:140-6 pubmed publisher
    Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, ..
  41. McMenamin S, Minchin J, Gordon T, Rawls J, Parichy D. Dwarfism and increased adiposity in the gh1 mutant zebrafish vizzini. Endocrinology. 2013;154:1476-87 pubmed publisher
  42. Alanay Y, Lachman R. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3:163-78 pubmed publisher
    ..This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings...
  43. Delaval B, Doxsey S. Pericentrin in cellular function and disease. J Cell Biol. 2010;188:181-90 pubmed publisher
    ..In this review, we focus on human conditions associated with loss or elevation of pericentrin and propose cellular and molecular models that might explain them...
  44. Tompson S, Faqeih E, Ala Kokko L, Hecht J, Miki R, Funari T, et al. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012;158A:309-14 pubmed publisher
    ..These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2...
  45. Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan M, Jackson S, et al. CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011;7:e1002310 pubmed publisher
    Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile...
  46. Akawi N, Ali B, Hamamy H, Al Hadidy A, Al Gazali L. Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?. Am J Med Genet A. 2011;155A:1236-45 pubmed publisher
    ..As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1...
  47. Can E, Bulbul A, Uslu S, Demirin H, Comert S, Bolat F, et al. A case of Seckel syndrome with Tetralogy of Fallot. Genet Couns. 2010;21:49-51 pubmed
    ..The syndrome (OMIM 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable ..
  48. Suzuki H, Katayama K, Takenaka M, Amakasu K, Saito K, Suzuki K. A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. Genes Brain Behav. 2009;8:650-60 pubmed publisher
    The lde/lde rat is characterized by dwarfism, postnatal lethality, male hypogonadism, a high incidence of epilepsy and many vacuoles in the hippocampus and amygdala...
  49. Seegmiller R, Bomsta B, Bridgewater L, Niederhauser C, Montano C, Sudweeks S, et al. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype. J Histochem Cytochem. 2008;56:1003-11 pubmed publisher
    ..micromelia (Dmm) mouse has a mutation in the C-propeptide coding region of the Col2a1 gene that causes lethal dwarfism when homozygous (Dmm/Dmm) but causes only mild dwarfism observable approximately 1-week postpartum when ..
  50. Borg K, Brown Borg H, Bartke A. Assessment of the primary adrenal cortical and pancreatic hormone basal levels in relation to plasma glucose and age in the unstressed Ames dwarf mouse. Proc Soc Exp Biol Med. 1995;210:126-33 pubmed
    ..These results provide new insights into the roles GH may play in glucose metabolism and perhaps also in adiposity which is a common characteristic of Df/- aged females from this line of mice. ..
  51. Boylston W, Gerstner A, DeFord J, Madsen M, Flurkey K, Harrison D, et al. Altered cholesterologenic and lipogenic transcriptional profile in livers of aging Snell dwarf (Pit1dw/dwJ) mice. Aging Cell. 2004;3:283-96 pubmed
  52. Brown Borg H, Borg K, Meliska C, Bartke A. Dwarf mice and the ageing process. Nature. 1996;384:33 pubmed
  53. Usha A, Lester D, Williams J. Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. Anim Genet. 1997;28:55-7 pubmed
    ..The heterozygous phenotype has been likened to achondroplastic dwarfism in humans (ACH), which has recently been shown to be the result of mutations in the transmembrane region of the ..
  54. Elzaouk L, Leimbacher W, Turri M, Ledermann B, Burki K, Blau N, et al. Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. J Biol Chem. 2003;278:28303-11 pubmed
    ..This is the first link shown between 6-pyruvoyltetrahydropterin synthase- or BH4-biosynthetic activity and IGF-1...
  55. Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, et al. Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. Bone. 2007;41:273-81 pubmed
    The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene...
  56. Hansen T, Hammer N, Nielsen J, Madsen M, Dalbaeck C, Wewer U, et al. Dwarfism and impaired gut development in insulin-like growth factor II mRNA-binding protein 1-deficient mice. Mol Cell Biol. 2004;24:4448-64 pubmed
    ..Taken together, the results demonstrate that IMP1 is essential for normal growth and development. Moreover, IMP1 may facilitate intestinal morphogenesis via regulation of extracellular matrix formation...
  57. Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab. 2004;89:1031-44 pubmed
    ..This review presents the personal experience gained from the study follow-up and treatment of the 60 patients followed up for many years in the Israeli cohort...
  58. Murakami S, Salmon A, Miller R. Multiplex stress resistance in cells from long-lived dwarf mice. FASEB J. 2003;17:1565-6 pubmed
    ..The findings suggest that increases in cellular resistance to stress may mediate extended longevity in mammals...