Browsing by Subject "autosomal recessive congenital ichthyosis"

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A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report

Ashour, Mohammed J.; Al-Ashi, Shadi F; Sharif, Fadel A. (SCIENCEDOMAIN International, 2015)

This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The ...