TY  - GEN
AU  - Jouan,Loubna
AU  - Ouled Amar Bencheikh,Bouchra
AU  - Daoud,Hussein
AU  - Dionne-Laporte,Alexandre
AU  - Dobrzeniecka,Sylvia
AU  - Spiegelman,Dan
AU  - Rochefort,Daniel
AU  - Hince,Pascale
AU  - Szuto,Anna
AU  - Lassonde,Maryse
AU  - Barbelanne,Marine
AU  - Tsang,William Y
AU  - Dion,Patrick A
AU  - Théoret,Hugo
AU  - Rouleau,Guy A
TI  - Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum
SN  - 1476-5438
PY  - 2016///1213
KW  - Adult
KW  - Agenesis of Corpus Callosum
KW  - diagnosis
KW  - Cell Cycle Proteins
KW  - Exome
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - genetics
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Siblings
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2015.156
ER  -