Expanding the clinical phenotype of COG6 deficiency

J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25.

Authors

Hanneke Haijes¹, Hubertus C M T Prinsen², Christian Thiel³, Christian Koerner³, Nanda M Verhoeven-Duif⁴, Peter M van Hasselt¹

Affiliations

¹ Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands.
² UMCU, Medical Genetics, Utrecht, Netherlands.
³ Zentrum fuer Kinder- und Jugendmedizin, Kinderheilkunde I, Heidelberg, Germany.
⁴ Department of Medical Genetics, UMC Utrecht, Section Metabolic diagnostics, Utrecht, Netherlands.

PMID: 24667119
DOI: 10.1136/jmedgenet-2014-102329

No abstract available

Keywords: Metabolic disorders.

Publication types

Letter
Comment

MeSH terms

Adaptor Proteins, Vesicular Transport / deficiency*
Adaptor Proteins, Vesicular Transport / genetics*
Humans
Hypohidrosis / genetics*
Intellectual Disability / genetics*
Male

Substances

Adaptor Proteins, Vesicular Transport