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Article

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

American journal of human genetics - 1 Jan 2009

Bargal Ruth, Cormier-Daire Valerie, Ben-Neriah Ziva, Le Merrer Martine, Sosna Jacob, Melki Judith, Zangen David H, Smithson Sarah F, Borochowitz Zvi, Belostotsky Ruth, Raas-Rothschild Annick

Abstract excerpt

The spondylo-meta-epiphyseal dysplasia [SMED] short limb-hand type [SMED-SL] is a rare autosomal-recessive disease, first reported by Borochowitz et al. in 1993.(1) Since then, 14 affected patients have been reported.(2-5) We diagnosed 6 patients from 5 different consanguineous Arab Muslim families from the Jerusalem area with SMED-SL. Additionally, we studied two patients from Algerian and Pakistani ancestry and...

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Source

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Identifiers

PMID: 19110212
DOI: 10.1016/j.ajhg.2008.12.004
PMCID: PMC2668047

Genes

DDR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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