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Results 81 - 90 of 119 for fragile x syndrome
  1. Primary macronodular adrenal hyperplasia 
    ... 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/.../primary-macronodular-adrenal-hyperplasia - Genetics
  2. Grange syndrome 
    ... can cause a stroke.Additional features of Grange syndrome can include short fingers and toes (brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile bones that are prone to breakage, and learning ...
    https://medlineplus.gov/genetics/condition/grange-syndrome - Genetics
  3. Clouston syndrome 
    ... sweat glands being unaffected.In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems ...
    https://medlineplus.gov/genetics/condition/clouston-syndrome - Genetics
  4. Periventricular heterotopia 
    ... association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. Periventricular heterotopia is a rare condition. ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - 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. Carney complex 
    ... lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.People with ...
    https://medlineplus.gov/genetics/condition/carney-complex - Genetics
  10. 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
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