Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
American journal of medical genetics. Part A - 1 Mar 2021
Morlino Silvia, Nardella Grazia, Castellana Stefano, Micale Lucia, Copetti Massimiliano, Fusco Carmela, Castori Marco
Abstract excerpt
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis laxa originally characterized by skin, skeletal, and neurological involvement, and a combined defect of N-glycosylation and O-glycosylation. The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, ARCL2A was...
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