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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Archive ouverte | Létard, Pascaline | CCSD

International audience. Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly ...

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Archive ouverte | Passemard, Sandrine | CCSD

International audience. Autosomal recessive primary microcephaly results from abnormal brain development linked to proliferation defects in neural progenitors. The most frequent form, caused by ASPM mutations, is us...

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene

Archive ouverte | Gins, Clarisse | CCSD

International audience. Background and ObjectivesGenetic primary microcephaly (PM) is a defect in early brain development leading to congenital microcephaly, mostly recessively inherited, and mild-to-moderate intell...

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