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Cutis "laxa," autosomal dominant
- ... 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 ...
- ... ALDH18A1 gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa ... is also known as de Barsy syndrome). In autosomal dominant cutis laxa, one copy of the altered ALDH18A1 gene in ...
- ... variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized by loose, ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. ...