title: Variable phenotypic expression of COG6 mutations.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male
chemical_list: D033942:Adaptor Proteins, Vesicular Transport
keywords: Academic medicine