Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them, Frederic

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. [electronic resource] - European journal of human genetics : EJHG Feb 2014 - 289-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2013.113 doi


Abnormalities, Multiple--diagnosis
Adult
Child, Preschool
Codon, Nonsense
Genetic Association Studies
Genetic Predisposition to Disease
Guanine Nucleotide Exchange Factors--genetics
Humans
Intellectual Disability--classification
Male
Phenotype