Title

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

Document Type

Journal Article

Publication Date

10-4-2018

Journal

American journal of human genetics

Volume

103

Issue

4

Inclusive Pages

553-567

DOI

10.1016/j.ajhg.2018.09.003

Peer Reviewed

1

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