KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.

Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 enco...

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Bibliographic Details
Main Authors: Laetitia Furio, Georgios Pampalakis, Iacovos P Michael, Andras Nagy, Georgia Sotiropoulou, Alain Hovnanian
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4577096?pdf=render