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Article

Compound heterozygous ASPM mutations in Pakistani MCPH families.

American journal of medical genetics. Part A - 1 May 2009

Muhammad Farooq, Mahmood Baig Shahid, Hansen Lars, Sajid Hussain Muhammad, Anjum Inayat Iram, Aslam Muhammad, Anver Qureshi Javed, Toilat Muhammad, Kirst Elisabeth, Wajid Muhammad, Nürnberg Peter, Eiberg Hans, Tommerup Niels, Kjaer Klaus W

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (<or=4 SD) and mental retardation without any other neurological manifestation. Of the four identified MCPH genes, homozygous truncating mutations in ASPM (MCPH5) account for >50% of all reported families. In spite of the high frequency of MCPH in Pakistan only one case of compound heterozygosity for mutations in ASPM...

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Source

Identifiers

PMID: 19353628
DOI: 10.1002/ajmg.a.32749

Genes

ASPM
STS

Provenance

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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Compound heterozygous ASPM mutations in Pakistani MCPH families.PMID 19353628Read ↗

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