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Article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Human molecular genetics - 15 Apr 2013

Sparrow Duncan B, McInerney-Leo Aideen, Gucev Zoran S, Gardiner Brooke, Marshall Mhairi, Leo Paul J, Chapman Deborah L, Tasic Velibor, Shishko Abduhadi, Brown Matthew A, Duncan Emma L, Dunwoodie Sally L

Abstract excerpt

In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the ide...

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Source

Identifiers

PMID: 23335591
DOI: 10.1093/hmg/ddt012

Genes

SCD
TBX6
DLL3
HES7
LFNG
MESP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23335591-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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