TY  - GEN
AU  - Tran Mau-Them,Frederic
AU  - Willems,Marjolaine
AU  - Albrecht,Beate
AU  - Sanchez,Elodie
AU  - Puechberty,Jacques
AU  - Endele,Sabine
AU  - Schneider,Anouck
AU  - Ruiz Pallares,Nathalie
AU  - Missirian,Chantal
AU  - Rivier,Francois
AU  - Girard,Manon
AU  - Holder,Muriel
AU  - Manouvrier,Sylvie
AU  - Touitou,Isabelle
AU  - Lefort,Genevieve
AU  - Sarda,Pierre
AU  - Moncla,Anne
AU  - Drunat,Severine
AU  - Wieczorek,Dagmar
AU  - Genevieve,David
TI  - Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
SN  - 1476-5438
PY  - 2015///0120
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Adult
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Guanine Nucleotide Exchange Factors
KW  - genetics
KW  - Humans
KW  - Intellectual Disability
KW  - classification
KW  - Male
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2013.113
ER  -