Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including collodion baby phenotype accompanied by dehydration, heat loss, electrolytic im...

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Bibliographic Details

Published in:	The Turkish Journal of Pediatrics
Main Authors:	Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç
Format:	Article
Language:	English
Published:	Hacettepe University Institute of Child Health 2017-08-01
Subjects:	PNPLA1 autosomal recessive congenital ichthyosis (ARCI) mutation
Online Access:	https://turkjpediatr.org/article/view/1018