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Article

Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.

Journal of child neurology - 1 May 2024

Alrifai Muhammad Talal, Alrumayyan Yousof, Baarmah Duaa, Alrumayyan Ahmed, Altuwaijri Waleed, AlMuqbil Mohammed, Eyaid Wafaa, Swaid Abdulrahman, Almutairi Fuad, Alfadhel Majid

Abstract excerpt

Background: Genetic microcephaly is linked to an increased risk of developmental disabilities, epilepsy, and motor impairment. The aim of this study is to describe the spectrum of identifiable genetic etiologies, clinical characteristics, and radiologic features of genetic microcephaly in patients referred to a tertiary center in Saudi Arabia. Method: This is a retrospective chart review study of all patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38847106
DOI: 10.1177/08830738241252848

Genes

ASPM
PLK1

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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