Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...

Source: BMC Medical Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He and Huaiyu Gu Tags: Case report Source Type: research