Ontology highlight
ABSTRACT:
SUBMITTER: Sir JH
PROVIDER: S-EPMC3299569 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Nature genetics 20111009 11
Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in prenatal human brain growth without alteration of the cerebral architecture and is caused by biallelic mutations in genes coding for a subset of centrosomal proteins. Although at least three of these proteins have been implicated in centrosome duplication, the nature of the centrosome dysfunction that underlies the neurodevelopmental defect in MCPH is unclear. Here we report a homozygous MCPH-causing m ...[more]