Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy-Reference-Cited by-同舟云学术

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Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

Published:2024-10 Issue: Volume:71 Page:104968
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Jiang Nan,Xu Wenyuan,Abdelhakim Aliaa,Matveyenko Anastasiya,Szabolcs Matthias,Copeland William C.,Disco Michele,Iglesias Alejandro,Lee Teresa M.,Naini Ali,Ganapathi Mythily^ORCID

Funder

National Institutes of Health

NIEHS

Publisher

Elsevier BV

Reference14 articles.

1. Coactivator and promoter-selective properties of RNA polymerase I TAFs;Beckmann;Science (New York, N.Y.),1995

2. Genetic insights into primary restrictive cardiomyopathy;Brodehl;J. Clin. Med.,2022

3. Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect;Brodehl;Genes,2019

4. Genetic restrictive cardiomyopathy: causes and consequences—an integrative approach;Cimiotti;Int. J. Mol. Sci.,2021

5. Idiopathic restrictive cardiomyopathy is primarily a genetic disease;Gallego-Delgado;J. Am. Coll. Cardiol.,2016

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