TY  - GEN
AU  - Grotto,Sarah
AU  - Drouin-Garraud,Valérie
AU  - Ounap,Katrin
AU  - Puusepp-Benazzouz,Helen
AU  - Schuurs-Hoeijmakers,Janneke
AU  - Le Meur,Nathalie
AU  - Chambon,Pascal
AU  - Fehrenbach,Séverine
AU  - van Bokhoven,Hans
AU  - Frébourg,Thierry
AU  - de Brouwer,Arjan P M
AU  - Saugier-Veber,Pascale
TI  - Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly
SN  - 1878-0849
PY  - 2014///1209
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Base Sequence
KW  - Chromosomes, Human, X
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Genetic Association Studies
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Megalencephaly
KW  - Pedigree
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2013.12.012
ER  -