Vorhofseptumdefekt 7 mit AV-Leitungsstörung ist ein seltener angeborerner Herzfehler, der autosomal dominant vererbt und durch Mutationen im NKX2-5-Gen ausgelöst wird.
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Schott JJ et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. ![]() |
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5. |
Hirayama-Yamada K et al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. ![]() |
6. |
Gutierrez-Roelens I et al. (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? ![]() |
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OMIM.ORG article Omim 108900![]() |
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Orphanet article Orphanet ID 1479![]() |