Fadel A. Sharif

An Autosomal Recessive form of Cornelia de Lange Syndrome Due to Mutations in TRMT61A Gene: A Case Report

Fadel A. Sharif · Journal of Advances in Medicine and Medical Research · 2020

Background: Cornelia de Lange syndrome is a rare genetic disorder presenting with craniofacial dysmorphia, developmental delay, intellectual disabilities, upper limb abnormalities and gastrointestinal problems. The disease is genetically heterogenous and the underlying genetic ca...

Open access Research Article 10.9734/jammr/2020/v32i2430785

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...

Open access Research Article 10.9734/BJMMR/2015/10731