Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

Clin Genet. 2015 Mar;87(3):296-8. doi: 10.1111/cge.12445. Epub 2014 Jul 30.

Authors

J B Vincent¹, T Jamil, M A Rafiq, Z Anwar, M Ayaz, A Hameed, T Nasr, F Naeem, N A Khattak, M Carter, I Ahmed, P John, E Wiame, D M Andrade, E V Schaftingen, A Mir, M Ayub

Affiliation

¹ Molecular Neuropsychiatry and Development (MiND) Laboratory, The Campbell Family Brain Research Institute, The Centre for Addiction and Mental Health (CAMH), Toronto, ON, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.

PMID: 25080166
DOI: 10.1111/cge.12445

No abstract available

Publication types

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

MeSH terms

Comparative Genomic Hybridization
Consanguinity
DNA Mutational Analysis
Family*
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Mutation*
Pakistan
Pedigree
Phosphoric Monoester Hydrolases / genetics*

Substances

Phosphoric Monoester Hydrolases
phosphoserine phosphatase

Grants and funding

MOP-102758/Canadian Institutes of Health Research/Canada