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Results 1 - 10 of 30 for Skeletal dysplasia
  1. COL2A1 gene 
    ... have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type. This severe disorder of bone growth ... back (lordosis).The variants associated with platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. 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
  3. 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
  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. ACAN gene 
    ... Briggs MD, Cohn DH, Krakow D. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  7. 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
  8. 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
  9. PGM3 gene 
    ... congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 3;95( ...
    https://medlineplus.gov/genetics/gene/pgm3 - Genetics
  10. 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
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