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Cutis "laxa," autosomal dominant 1
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A ...
- ... 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 ...
- ... loss of function effect and plausibility of a dominant negative mechanism. Brain. ... recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am ...
- ... 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 ...
- ... the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks ... II. GSN This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
