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Identification Of Two Novel Pnpla1 Mutations In Turkish Families With Autosomal Recessive Congenital Ichthyosis
(Turkish J Pediatrics, 2017)
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 ...