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Article

Refining the phenotype associated with CASC5 mutation.

Neurogenetics - 1 Jan 2016

Saadi Abdelkrim, Verny Florine, Siquier-Pernet Karine, Bole-Feysot Christine, Nitschke Patrick, Munnich Arnold, Abada-Dendib Myriam, Chaouch Malika, Abramowicz Marc, Colleaux Laurence

Abstract excerpt

Autosomal recessive primary microcephaly is a neurodevelopmental disorder characterized by congenitally reduced head circumference by at least two standard deviations (SD) below the mean for age and gender. It is associated with nonprogressive mental retardation of variable degree, minimal neurological deficit with no evidence of architectural anomalies of the brain. So far, 12 genetic loci (MCPH1-12) and...

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PMID: 26626498
DOI: 10.1007/s10048-015-0468-7

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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