TY  - GEN
AU  - Capo-Chichi,José-Mario
AU  - Boissel,Sarah
AU  - Brustein,Edna
AU  - Pickles,Sarah
AU  - Fallet-Bianco,Catherine
AU  - Nassif,Christina
AU  - Patry,Lysanne
AU  - Dobrzeniecka,Sylvia
AU  - Liao,Meijiang
AU  - Labuda,Damian
AU  - Samuels,Mark E
AU  - Hamdan,Fadi F
AU  - Vande Velde,Christine
AU  - Rouleau,Guy A
AU  - Drapeau,Pierre
AU  - Michaud,Jacques L
TI  - Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
SN  - 1468-6244
PY  - 2016///0106
KW  - Animals
KW  - Brain Diseases
KW  - diagnosis
KW  - Chromosome Mapping
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Endopeptidase Clp
KW  - genetics
KW  - Exome
KW  - Gene Knockdown Techniques
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Metabolism, Inborn Errors
KW  - Microcephaly
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Siblings
KW  - Zebrafish
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2014-102952
ER  -