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Article

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

American journal of medical genetics. Part A - 1 Sept 2013

Sparrow Duncan B, Faqeih Eissa Ali, Sallout Bahauddin, Alswaid Abdulrahman, Ababneh Faroug, Al-Sayed Moeenaldeen, Rukban Hadeel, Eyaid Wafaa M, Kageyama Ryoichiro, Ellard Sian, Turnpenny Peter D, Dunwoodie Sally L

Abstract excerpt

Spondylocostal dysotosis (SCD) is a rare developmental congenital abnormality of the axial skeleton. Mutation of genes in the Notch signaling pathway cause SCD types 1-5. Dextrocardia with situs inversus is a rare congenital malformation in which the thoracic and abdominal organs are mirror image...

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Source

Identifiers

PMID: 23897666
DOI: 10.1002/ajmg.a.36073

Genes

HES7
SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23897666-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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