Condition: SAUL-WILSON SYNDROME
rs1555575860
in
COG4
gene and
SAUL-WILSON SYNDROME
PMID 30290151
2018 A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.