Novel missense mutation in NKX2.6 gene (c.389 G > C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease-Reference-Cited by-同舟云学术

Novel missense mutation in NKX2.6 gene (c.389 G > C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease

Published:2023-12 Issue: Volume:33 Page:101819
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

Khatami Mehri^ORCID,Ghazinader Donya,Ahmadi Fatemeh,Heidari Mohammad Mehdi^ORCID,Hadadzadeh Mehdi^ORCID,Namnabat Mohsen^ORCID

Publisher

Elsevier BV

Subject

Genetics

Reference29 articles.

1. Familial truncus arteriosus: a possible autosomal-recessive trait;Abushaban;Pediatr. Cardiol.,2003

2. NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets;Bouveret;Elife,2015

3. Transcription factors and congenital heart defects;Clark;Annu. Rev. Physiol.,2006

4. Novel point mutations of CITED2 gene are associated with non-familial congenital heart disease (CHD) in sporadic pediatric patients;Dianatpour;Appl. Biochem. Biotechnol.,2020

5. Regulation of fetal gene expression in heart failure;Dirkx;Biochim. Biophys. Acta (BBA) - Mol. Basis Dis.,2013

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