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Article

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

American journal of medical genetics. Part A - 1 Jun 2020

Ritter Alyssa, Werner Petra, Latney Brande, Krock Bryon L, Santani Avni, Bedoukian Emma, Skraban Cara M, Deardorff Matthew A, Goldmuntz Elizabeth

Abstract excerpt

Congenital heart defects (CHD) are the most common birth defect and are both clinically and genetically heterogeneous. Truncus arteriosus (TA), characterized by a single arterial vessel arising from both ventricles giving rise to the coronary, pulmonary and systemic arteries, is rare and only responsible for 1% of all CHD. Two consanguineous families with TA were previously identified to have homozygous nonsense...

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PMID: 32198970
DOI: 10.1002/ajmg.a.61550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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