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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Bibliographic Details
Published in: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
Language:Inglês
Published: Elsevier 2020
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Online Access: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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