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Article

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

European journal of human genetics : EJHG - 1 Feb 2006

Mavrogiannis Lampros A, Taylor Indira B, Davies Sally J, Ramos Feliciano J, Olivares José L, Wilkie Andrew O M

Abstract excerpt

Heterozygous mutations of the homeobox genes ALX4 and MSX2 cause skull defects termed enlarged parietal foramina (PFM) and cranium bifidum (CB); a single MSX2 mutation has been documented in a unique craniosynostosis (CRS) family. However, the relative mutational contribution of these genes to PFM/CB and CRS is not known and information on genotype-phenotype correlations is incomplete. We analysed ALX4 and MSX2...

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Source

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Identifiers

PMID: 16319823
DOI: 10.1038/sj.ejhg.5201526
PMCID: PMC1477589

Genes

ALX4
MSX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.PMID 16319823Read ↗

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