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Results 11 - 15 of 15 for Lethal skeletal dysplasia
  1. 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
  2. Osteochondrodysplasias (Merck & Co., Inc.)  
    Cartilage Disorders/Specifics ... Cartilage Disorders ... Merck & Co., Inc. ... Osteochondrodysplasias - Learn about the causes, symptoms, diagnosis & treatment from the Merck ...
    https://www.merckmanuals.com/.../osteochondrodysplasias - External Health Links
  3. Metatropic dysplasia 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A( ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  4. Terminal osseous dysplasia 
    Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  5. LMNA gene 
    ... in bone development and fat distribution as mandibuloacral dysplasia, although they are typically milder in APS.Mutations in the LMNA gene have also been identified in newborns with a disorder called lethal restrictive dermopathy. Infants with this disorder have tight, ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
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