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Article

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

American journal of human genetics - 4 May 2012

Hussain Muhammad Sajid, Baig Shahid Mahmood, Neumann Sascha, Nürnberg Gudrun, Farooq Muhammad, Ahmad Ilyas, Alef Thomas, Hennies Hans Christian, Technau Martin, Altmüller Janine, Frommolt Peter, Thiele Holger, Noegel Angelika Anna, Nürnberg Peter

Abstract excerpt

Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but usually without defects in cerebral cortical architecture, and other syndromic abnormalities. MCPH is heterogeneous. The underlying genes of the seven known loci code for centrosomal proteins. We studied a family from northern Pakistan with two microcephalic...

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Identifiers

PMID: 22521416
DOI: 10.1016/j.ajhg.2012.03.016
PMCID: PMC3376485

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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