Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

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 palmo...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Boyden, Lynn M., Zhou, Jing, Hu, Ronghua, Zaki, Theodore, Loring, Erin, Scott, Jared, Traupe, Heiko, Paller, Amy S., Lifton, Richard P., Choate, Keith A.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332602/
https://ncbi.nlm.nih.gov/pubmed/32516568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.013
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