Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 differen...

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Bibliographic Details

Published in:	Acta Dermato-Venereologica
Main Authors:	Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
Format:	Article
Language:	English
Published:	Medical Journals Sweden 2019-06-01
Subjects:	ARCI Spanish population PNPLA1 founder effects c.417_418delinsTC
Online Access:	https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3227