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Article

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Orphanet journal of rare diseases - 15 Apr 2013

Issa Lina, Mueller Katrin, Seufert Katja, Kraemer Nadine, Rosenkotter Henning, Ninnemann Olaf, Buob Michael, Kaindl Angela M, Morris-Rosendahl Deborah J

Abstract excerpt

BACKGROUND: Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause of MCPH3. Despite...

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Source

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Identifiers

PMID: 23587236
DOI: 10.1186/1750-1172-8-59
PMCID: PMC3639195

Genes

MCPH1
PNKP

Variants

Provenance

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