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Article

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

American journal of human genetics - 1 Jun 2008

Cornier Alberto S, Staehling-Hampton Karen, Delventhal Kym M, Saga Yumiko, Caubet Jean-Francois, Sasaki Nobuo, Ellard Sian, Young Elizabeth, Ramirez Norman, Carlo Simon E, Torres Jose, Emans John B, Turnpenny Peter D, Pourquié Olivier

Abstract excerpt

Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax. The shortened spine and trunk can severely affect respiratory function during early...

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Source

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Identifiers

PMID: 18485326
DOI: 10.1016/j.ajhg.2008.04.014
PMCID: PMC2427230

Genes

MESP2

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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