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Results 1 - 5 of 5 for "Ehlers-Danlos" "syndrome," type 4 variant
  1. Ehlers-Danlos syndrome 
    ... 20 genes have been found to cause the Ehlers-Danlos syndromes. Variants in the COL5A1 or COL5A2 gene, or rarely ... in the kyphoscoliotic type. Other rare forms of Ehlers-Danlos syndrome result from variants in other genes.Some of the genes associated ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  2. FKBP14 gene 
    ... J, Fauth C. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  3. PLOD1 gene 
    ... is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1): ...
    https://medlineplus.gov/genetics/gene/plod1 - Genetics
  4. FLNA gene 
    ... CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25;64(2):254-62. ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  5. Types of OI (Osteogenesis Imperfecta Foundation)  
    Osteogenesis Imperfecta/Specifics ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation
    https://oif.org/informationcenter/about-oi - External Health Links