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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. (2018)

First Author: Ferreira CR

Attributed to: From Microcephaly to Genome Stability, Inflammation and Growth Regulation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2018.09.003

PubMed Identifier: 30290151

Publication URI: http://europepmc.org/abstract/MED/30290151

Type: Journal Article/Review

Volume: 103

Parent Publication: American journal of human genetics

Issue: 4

ISSN: 0002-9297