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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 of the distal joints. The most remarkable radiographic features are the delayed and impaired ossification of the...

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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