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Cutis "laxa," autosomal dominant 2
- ... PHENOTYPE CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B CUTIS LAXA, ...
- ... 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 ...
- ... as mutations) in the ALDH18A1 gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive ...
- ... 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. ...