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Article

Mutated MESP2 causes spondylocostal dysostosis in humans.

American journal of human genetics - 1 Jun 2004

Whittock Neil V, Sparrow Duncan B, Wouters Merridee A, Sillence David, Ellard Sian, Dunwoodie Sally L, Turnpenny Peter D

Abstract excerpt

Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consistent and...

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Source

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Identifiers

PMID: 15122512
DOI: 10.1086/421053
PMCID: PMC1182088

Genes

DLL3
MESP2
SCD

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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Mutated MESP2 causes spondylocostal dysostosis in humans.PMID 15122512Read ↗

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.Semantic proximity Read ↗

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.Semantic proximity Read ↗

Defective somitogenesis and abnormal vertebral segmentation in man.Semantic proximity Read ↗

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Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.Semantic proximity Read ↗

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Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?Semantic proximity Read ↗

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