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Results 61 - 70 of 71 for Multiple skeletal anomalies
  1. ANKH gene 
    ... ANKH gene mutations typically form crystal deposits within multiple joints during early adulthood. Researchers believe that these ... Strong association between polymorphisms in ANKH locus and skeletal size traits. Hum Genet. 2006 Aug;120(1): ...
    https://medlineplus.gov/genetics/gene/ankh - Genetics
  2. X-linked dilated cardiomyopathy 
    ... PubMed ... Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart. ...
    https://medlineplus.gov/.../x-linked-dilated-cardiomyopathy - Genetics
  3. Cytochrome c oxidase deficiency 
    ... complexes) called holoenzymes, which are each composed of multiple protein parts (subunits). Many other proteins are involved ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  4. Collagen VI-related dystrophy 
    ... related dystrophy often have signs and symptoms of multiple forms of this condition, so it can be ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  5. Osteoglophonic dysplasia 
    ... In particular, they play a major role in skeletal development.The FGFR1 protein spans the cell membrane, ... Kozlowski K. Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. Pediatr Radiol. 1997 Jan;27(1): ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  6. RAF1 gene 
    ... have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  7. Crouzon syndrome with acanthosis nigricans 
    ... PubMed Central Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK ... factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis ...
    https://medlineplus.gov/...rouzon-syndrome-with-acanthosis-nigricans - Genetics
  8. MYH7 gene 
    ... weakened and cannot pump blood efficiently. These cardiac abnormalities can result in a wide range of outcomes ... which include type II myosin, within type I skeletal muscle fibers. The MYH7 gene mutations that cause ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  9. Pseudoachondroplasia 
    ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of ... Sharan SK, Hecht JT. Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. Cell ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  10. Legg-Calvé-Perthes disease 
    ... S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. ... Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. ...
    https://medlineplus.gov/.../condition/legg-calve-perthes-disease - Genetics
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