Original paper

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

Volume: 182, Issue: 6, Pages: 1454 - 1459
Published: Mar 21, 2020
Abstract
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 variants within the gene NKX2‐6 ....
Paper Details
Title
NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus
Published Date
Mar 21, 2020
Volume
182
Issue
6
Pages
1454 - 1459
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