Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

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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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Bibliografiske detaljer
Main Authors:	Haixia Zhang, Jing Chen, He Wang, Qinqin Xiang, Shanling Liu
Format:	Article
Sprog:	engelsk
Udgivet:	Frontiers Media S.A. 2025-07-01
Serier:	Frontiers in Genetics
Fag:	nkx2-5 nonsense variant trio-whole-exome sequencing nonsyndromic congenital heart disease case report
Online adgang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1498144/full
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!

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