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

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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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
Series:The Turkish Journal of Pediatrics
Subjects:
PNPLA1
autosomal recessive congenital ichthyosis (ARCI)
mutation
Online Access:https://turkjpediatr.org/article/view/1018
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