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Article

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

American journal of human genetics - 10 Jan 2013

Mohamed Jawahir Y, Faqeih Eissa, Alsiddiky Abdulmonem, Alshammari Muneera J, Ibrahim Niema A, Alkuraya Fowzan S

Abstract excerpt

Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present with other associated anomalies, but the genetics of isolated KFS have been difficult to study because of the syndrome's mostly sporadic occurrence. We describe a...

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Source

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Identifiers

PMID: 23290072
DOI: 10.1016/j.ajhg.2012.11.016
PMCID: PMC3542464

Genes

MEOX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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