A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case

Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and geneti...

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Бібліографічні деталі
Автори: Jose G. Acuña-Ochoa, Norma A. Balderrábano-Saucedo, Ana C. Cepeda-Nieto, Maria Y. Alvarado-Cervantes, Vianca L. Ibarra-Garcia, Daniel Barr, Matthew J. Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez
Формат: Стаття
Мова:English
Опубліковано: Wiley 2024-01-01
Серія:Case Reports in Genetics
Онлайн доступ:http://dx.doi.org/10.1155/crig/9517735