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

Jiang, N., Xu, W., Abdelhakim, A., Matveyenko, A., Szabolcs, M., Copeland, W. C., Disco, M., Iglesias, A., Lee, T. M., Naini, A., & Ganapathi, M. (2024). Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy. European Journal of Medical Genetics, 71, 104968. https://doi.org/10.1016/j.ejmg.2024.104968
Authors:
Nan Jiang
Xiaoyu Ji
Aliaa H. Abdelhakim
Anastasiya Matveyenko
Matthias Szabolcs
William C. Copeland
Michele Disco
Alejandro Iglesias
Teresa M. Lee
Ali Naini
Mythily Ganapathi
Affiliated Authors:
Nan Jiang
Xiaoyu Ji
Aliaa H. Abdelhakim
Anastasiya Matveyenko
Matthias Szabolcs
Michele Disco
Alejandro Iglesias
Teresa M. Lee
Ali Naini
Mythily Ganapathi
Columbia Affiliation:
Subjects:
Mutation, Missense (MeSH)
TATA-Binding Protein Associated Factors (MeSH)
Transcription Factor TFIID (MeSH)
Siblings (MeSH)
Cardiomyopathy, Restrictive (MeSH)
Diagnosis and Management of Hypertrophic Cardiomyopathy (OpenAlex Topic)
Molecular Mechanisms of Cardiac Development and Regeneration (OpenAlex Topic)
Diagnosis and Management of Arrhythmogenic Right Ventricular Cardiomyopathy (OpenAlex Topic)
Author Keywords:
autosomal recessive
cardiac transplant
dilated cardiomyopathy
pediatric cardiomyopathy
restrictive cardiomyopathy
ribosomal rna synthesis
ribosomopathy
taf1a
elink
Publication Type:
Article
Unique ID:
10.1016/j.ejmg.2024.104968
PMID:
39209150
DOI:
10.1016/j.ejmg.2024.104968
Journal:
European Journal of Medical Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: