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Article

Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.

Nature genetics - 1 Dec 1993

Casey B, Devoto M, Jones K L, Ballabio A

Abstract excerpt

Ambiguous abdominal situs, asplenia/polysplenia and severe cardiac malformations characterize heterotaxy in humans. These anomalies result from the inability of the developing embryo to establish normal left-right asymmetry. We have studied an interesting family in which the heterotaxy phenotype segregates as an X-linked recessive trait. In order to map the heterotaxy locus (HTX), we have analysed 39 family...

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Identifiers

PMID: 8298651
DOI: 10.1038/ng1293-403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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