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