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Article

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

American journal of human genetics - 1 Dec 2009

Hellemans Jan, Simon Marleen, Dheedene Annelies, Alanay Yasemin, Mihci Ercan, Rifai Laila, Sefiani Abdelaziz, van Bever Yolande, Meradji Morteza, Superti-Furga Andrea, Mortier Geert

Abstract excerpt

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. The limbs appear relatively long and may show flexion contractures...

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Identifiers

PMID: 20004766
DOI: 10.1016/j.ajhg.2009.11.005
PMCID: PMC2790567

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20004766-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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