Article
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
American journal of human genetics - 2 Jul 2020
Boyden Lynn M, Zhou Jing, Hu Ronghua, Zaki Theodore, Loring Erin, Scott Jared, Traupe Heiko, Paller Amy S, Lifton Richard P, Choate Keith A
Abstract excerpt
The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1...
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