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Results 1 - 10 of 31 for Skeletal dysplasia
  1. CHST3 gene 
    ... gene have been found to cause CHST3-related skeletal dysplasia, a condition characterized by progressive bone and joint ... dislocations, and the other features of CHST3-related skeletal dysplasia. More About This Health Condition C6ST C6ST-1 ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  2. TRPV4 gene 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... S, Superti-Furga A, Unger S. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  3. COL2A1 gene 
    ... the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. FGFR3 gene 
    ... factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  5. SOX9 gene 
    ... in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet. 2005 Apr;76(4): ...
    https://medlineplus.gov/genetics/gene/sox9 - Genetics
  6. LBR gene 
    ... Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14- ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  7. TRIP11 gene 
    ... DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP- ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  8. ACP5 gene 
    ... deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011 Feb; ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
  9. COMP gene 
    ... Sharan SK, Hecht JT. Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. Cell Mol ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  10. AMER1 gene 
    ... SP. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
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