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Results 1 - 10 of 16 for Fragile X syndrome
  1. FMR1 gene 
    ... mild versions of the physical features seen in fragile X syndrome (described above), such as prominent ears, and may ... About This Health Condition Almost all cases of fragile X syndrome are caused by an expansion of the CGG ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  2. AFF2 gene 
    ... FMR2 family, member 2 AFF2_HUMAN FMR2 FMR2P fragile X E mental retardation syndrome protein fragile X mental retardation 2 protein FRAXE MRX2 OX19 protein ...
    https://medlineplus.gov/genetics/gene/aff2 - Genetics
  3. TNXB gene 
    ... similar to the classical type of Ehlers-Danlos syndrome, including hypermobility ... of any tenascin-X protein. A loss of this protein severely disrupts ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  4. COL1A1 gene 
    ... skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and joint hypermobility. Additionally, people with classical Ehlers-Danlos syndrome resulting from a COL1A1 gene mutation are prone ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  5. PDGFRB gene 
    ... feet. Affected individuals have highly stretchy (elastic) and fragile skin. People with ... aging syndrome, Penttinen type is characterized by a lack of ...
    https://medlineplus.gov/genetics/gene/pdgfrb - Genetics
  6. COL7A1 gene 
    ... doi: 10.1046/j.1523-1747.2002.19606.x. Citation on PubMed Han YM, Lee N, Byun SY, Cheon SJ, Ko HC. Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene. ...
    https://medlineplus.gov/genetics/gene/col7a1 - Genetics
  7. FERMT1 gene 
    ... autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. Citation on PubMed Has C, Castiglia D, del ...
    https://medlineplus.gov/genetics/gene/fermt1 - Genetics
  8. YY1AP1 gene 
    ... tissues, including the kidneys, brain, and heart. Grange syndrome can also be associated with short fingers and toes (brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile bones that are prone to breakage, learning disabilities, ...
    https://medlineplus.gov/genetics/gene/yy1ap1 - Genetics
  9. ARMC5 gene 
    ... Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013 Nov 28;369( ...
    https://medlineplus.gov/genetics/gene/armc5 - Genetics
  10. COL5A2 gene 
    ... skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). About 20 COL5A2 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. These mutations, which affect one copy of the ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
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