Biallelic Potential Disease-Causing Missense Variants in TAF1A in Two Siblings with Infantile Restrictive Cardiomyopathy

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

European Journal of Medical Genetics（2024）

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关键词

TAF1A,Restrictive cardiomyopathy,Dilated cardiomyopathy,Pediatric cardiomyopathy,Ribosomopathy,Ribosomal RNA synthesis,Cardiac transplant,Autosomal recessive

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