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Article

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.

JPMA. The Journal of the Pakistan Medical Association - 1 Nov 2012

Hosseini Miss Masoumeh, Tonekaboni Seyed Hassan, Papari Elaheh, Bahman Idea, Behjati Farkhondeh, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present with a head circumference 3 standard deviations (SDs) below the age- and sex-related mean and is accompanied by mental retardation without further associated malformations. Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus. Clinical examination and karyotype analyses were...

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Source

Identifiers

PMID: 23866422

Genes

MCPH1

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

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