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Results 91 - 100 of 119 for fragile x syndrome
  1. 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
  2. COL5A1 gene 
    ... skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. The mutations affect one copy of the gene ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  3. ADAMTS2 gene 
    ... Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group ... by soft, fragile skin that sags and wrinkles; easy bruising; and ...
    https://medlineplus.gov/genetics/gene/adamts2 - Genetics
  4. Kindler epidermolysis bullosa 
    ... 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 Bardhan A, Bruckner-Tuderman L, ...
    https://medlineplus.gov/.../condition/kindler-epidermolysis-bullosa - Genetics
  5. Porphyria From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    Porphyria/Start Here ... Porphyria ... National Institute of Diabetes and Digestive and Kidney Diseases ... From the National Institutes of Health ... Porphyrias are diseases ...
    https://www.niddk.nih.gov/health-information/liver-disease/porphyria - External Health Links
  6. DSP gene 
    ... doi: 10.1111/j.1365-2133.2010.09668.x. Epub 2010 Mar 10. Citation on PubMed Chalabreysse L, Senni F, Bruyere P, Aime B, Ollagnier C, Bozio A, Bouvagnet P. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  7. KRT14 gene 
    ... doi: 10.1111/j.1365-2230.2008.02950.x. Epub 2008 Nov 24. Citation on PubMed ... and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics
  8. FKBP14 gene 
    ... spine (kyphoscoliosis) that can interfere with breathing; and fragile blood ... Ehlers-Danlos syndrome. These mutations, which affect both copies of the ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  9. PLEC gene 
    ... Condition MedlinePlus Genetics provides information about ... that causes the skin to be very fragile and to blister easily. This mutation has been ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
  10. Lipoid proteinosis 
    ... Wiethe disease Urbach-Wiethe lipoid proteinosis Urbach-Wiethe syndrome ... Callizo M, Ibanez-Flores N, Laue J, Cuadrado V, Graell X, Sancho JM. Eyelid lesions in lipoid proteinosis or ...
    https://medlineplus.gov/genetics/condition/lipoid-proteinosis - Genetics
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