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Article

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

American journal of human genetics - 1 Feb 2009

Kumar Arun, Girimaji Satish C, Duvvari Mahesh R, Blanton Susan H

Abstract excerpt

Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. MCPH is genetically heterogeneous with six known loci: MCPH1-MCPH6. We report mapping of a novel locus, MCPH7, to chromosome 1p32.3-p33 between markers...

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Source

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Identifiers

PMID: 19215732
DOI: 10.1016/j.ajhg.2009.01.017
PMCID: PMC2668020

Genes

STIL
MCPH1
ASPM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19215732-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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