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Article

Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

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

Ta-Shma Asaf, Pierri Ciro Leonardo, Stepensky Polina, Shaag Avraham, Zenvirt Shamir, Elpeleg Orly, Rein Azaria J J T

Abstract excerpt

Truncus arteriosus accounts for approximately 1% of congenital heart defects and the cause of isolated non-syndromic truncus arteriosus is largely unknown. In order to identify the underlying molecular defect in a consanguineous family with recurrent tuncus arteriosus, homozygosity mapping follow...

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Source

Identifiers

PMID: 24254849
DOI: 10.1002/ajmg.a.36194

Genes

PLXND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24254849-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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