Expanding the Molecular and Clinical Phenotype of SSR4‐CDG. Issue 11 (27th August 2015) - Ng, Bobby G.
Abstract Congenital Disorders of Glycosylation (CDG) lead to incomplete protein glycosylation. One disorder, SSR4‐CDG, was previously defined in a single patient. Here we present molecular analysis and clinical phenotypes of eight males with inherited and de novo mutations in X‐linked SSR4. Standard CDG biochemical analysis might easily miss them.