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

• Main Authors: Uxia Esperón-Moldes (Author), Manuel Ginarte Val (Author), Laura Rodríguez-Pazos (Author), Laura Fachal (Author), José Manuel Azaña (Author), María Barberá Fons (Author), Mónica Viejo Diaz (Author), Ana Vega (Author)
• Format: Book
• Published: Medical Journals Sweden, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...