A Novel Missense Mutation in Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

by Yasser Al-Sarraj BSC, Tawfeg Ben-Omran MD, Mohammed Tolefat MBBS, Yosra Bejaoui MSc, Hatem El-Shanti MD, Marios Kambouris PhD
Published 2014-09-01