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Article

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

Human molecular genetics - 15 Dec 2012

Genin Anne, Desir Julie, Lambert Nelle, Biervliet Martine, Van Der Aa Nathalie, Pierquin Genevieve, Killian Audrey, Tosi Mario, Urbina Montse, Lefort Anne, Libert Frederick, Pirson Isabelle, Abramowicz Marc

Abstract excerpt

Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no othe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22983954
DOI: 10.1093/hmg/dds386

Genes

ASPM
ZWINT
BUB1
KNL1
MIS12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22983954-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).Semantic proximity Read ↗

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