Variable phenotypic expression of COG6 mutations

J Med Genet. 2014 Jun;51(6):425-6. doi: 10.1136/jmedgenet-2014-102388. Epub 2014 Mar 25.

Authors

Fowzan S Alkuraya¹, Ranad Shaheen¹

Affiliation

¹ Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

PMID: 24667118
DOI: 10.1136/jmedgenet-2014-102388

No abstract available

Keywords: Academic medicine.

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