title: Expanding the clinical phenotype of COG6 deficiency.
authors.affiliation: Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands.
authors.forename: Hanneke
authors.initials: H
authors.lastname: Haijes
authors.affiliation: UMCU, Medical Genetics, Utrecht, Netherlands.
authors.forename: Hubertus C M T
authors.initials: HC
authors.lastname: Prinsen
authors.affiliation: Zentrum fuer Kinder- und Jugendmedizin, Kinderheilkunde I, Heidelberg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Thiel
authors.affiliation: Zentrum fuer Kinder- und Jugendmedizin, Kinderheilkunde I, Heidelberg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Koerner
authors.affiliation: Department of Medical Genetics, UMC Utrecht, Section Metabolic diagnostics, Utrecht, Netherlands.
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven-Duif
authors.affiliation: Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands.
authors.forename: Peter M
authors.initials: PM
authors.lastname: van Hasselt
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: Metabolic disorders