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Article

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

American journal of medical genetics. Part A - 1 Aug 2016

Abdel-Hamid Mohamed S, Ismail Manal F, Darwish Hebatallh A, Effat Laila K, Zaki Maha S, Abdel-Salam Ghada M H

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. Mutations in the ASPM gene have been identified to be the most prevalent. Thirty-seven patients from 30 unrelated families with a clinical diagnosis of MCPH were enrolled in this study. Screening of ASPM gene mutations was...

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Identifiers

PMID: 27250695
DOI: 10.1002/ajmg.a.37724

Genes

ASPM

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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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