Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease
BackgroundNK2 HOMEOBOX 5(OMIM: 600584, NKX2-5), a pivotal cardiac regulatory transcription factor, represents the initial identified genetic etiology underlying congenital heart diseases (CHDs). As a member of the NK homeobox gene family, NKX2-5 functions as an essential DNA-binding transcriptional...
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| Autores principales: | , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
Frontiers Media S.A.
2025-07-01
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| Colección: | Frontiers in Genetics |
| Materias: | |
| Acceso en línea: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1498144/full |
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