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Article

Mutations in the G6PC3 gene cause Dursun syndrome.

American journal of medical genetics. Part A - 1 Oct 2010

Banka Siddharth, Newman William G, Ozgül R Koksal, Dursun Ali

Abstract excerpt

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of D...

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Source

Identifiers

PMID: 20799326
DOI: 10.1002/ajmg.a.33615

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20799326-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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