Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Capo-Chichi, José-Mario

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. [electronic resource] - Journal of medical genetics May 2015 - 303-11 p. digital

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

1468-6244

10.1136/jmedgenet-2014-102952 doi


Animals
Brain Diseases--diagnosis
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Endopeptidase Clp--genetics
Exome
Gene Knockdown Techniques
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Infant, Newborn
Metabolism, Inborn Errors--diagnosis
Microcephaly--diagnosis
Mutation
Pedigree
Phenotype
Siblings
Zebrafish