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Results 1 - 3 of 3 for Cutis "laxa," autosomal dominant 1
  1. ELN gene 
    ... variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized by loose, sagging skin; ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with ... Epub 2011 Mar 1. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  2. ALDH18A1 gene 
    ... loss of function effect and plausibility of a dominant negative mechanism. Brain. ... recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. FBLN5 gene 
    ... this gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 2 (ADCL2) and autosomal recessive cutis laxa type 1A (ARCL1A). In autosomal dominant cutis laxa, one copy of the altered FBLN5 gene in ...
    https://medlineplus.gov/genetics/gene/fbln5 - Genetics