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Article

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

European journal of human genetics : EJHG - 1 Dec 2016

Liang Jia, Von den Hoff Johannes, Lange Joanna, Ren Yijin, Bian Zhuan, Carels Carine E L

Abstract excerpt

The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in several tissues. In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease causing variants to phenotypic features to shed light on this hitherto unclear association. MSX1 truncations cause...

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Source

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Identifiers

PMID: 27381090
DOI: 10.1038/ejhg.2016.78
PMCID: PMC5117928

Genes

MSX1

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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