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Article

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Prenatal diagnosis - 1 Jul 2003

Whittock Neil V, Turnpenny Peter D, Tuerlings Joep, Ellard Sian

Abstract excerpt

Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed a...

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Source

Identifiers

PMID: 12868087
DOI: 10.1002/pd.643

Genes

DLL3
SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12868087-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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