Shadi F. Al-Ashi

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

Mohammed J. Ashour, Shadi F. Al-Ashi & Fadel A. Sharif · Journal of Advances in Medicine and Medical Research · 2014

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 neonate was born as a "collodion-baby" and he is the prod...