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Cutis "laxa," autosomal dominant
- ... Registry: Cutis laxa with osteodystrophy Genetic Testing Registry: Cutis laxa, autosomal dominant Genetic Testing Registry: Cutis laxa, autosomal recessive Genetic ...
- ... 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. ...
- ... 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 ...
