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Article

A novel WDR62 mutation causes primary microcephaly in a Pakistani family.

Molecular biology reports - 1 Jan 2013

Memon Mazhar Mustafa, Raza Syed Irfan, Basit Sulman, Kousar Rizwana, Ahmad Wasim, Ansar Muhammad

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder which mainly affects neurodevelopment. Generally, MCPH patients exhibit mild brain structural anomalies and simplified cerebral cortex, but few recently identified genes are associated with severe brain malformations. Here, we report a five generation Pakistani family with three affected individuals presenting primary microcephaly,...

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Identifiers

PMID: 23065275
DOI: 10.1007/s11033-012-2097-7

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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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