Confirming the candidacy of THOC6 in the etiology of intellectual disability

Am J Med Genet A. 2016 May;170A(5):1367-9. doi: 10.1002/ajmg.a.37549. Epub 2016 Jan 6.

Authors

Shamsa Anazi¹, Muneera Alshammari², Dorota Moneis^{1

3}, Mohamed Abouelhoda^{1

3}, Niema Ibrahim¹, Fowzan S Alkuraya^{1

3

4}

Affiliations

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
³ Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PMID: 26739162
DOI: 10.1002/ajmg.a.37549

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Anus, Imperforate / physiopathology*
Anus, Imperforate / surgery
Child
Humans
Intellectual Disability / complications
Intellectual Disability / genetics*
Intellectual Disability / physiopathology*
Male
Mutation
RNA-Binding Proteins / genetics*
Sequence Analysis, DNA

Substances

RNA-Binding Proteins
THOC7 protein, human