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Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a monogenic disease with autosomal dominant inheritance. Genotype–phenotype relationships are complex, with variable penetrance even within the same family. The involvement of other modulating genetic and environmental factors is unknown. We aimed to analyze the...

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Detalles Bibliográficos
Autores principales: Rodríguez Junquera, Manuel, Salgado, María, González-Urbistondo, Francisco, Alén, Alberto, Rodríguez-Reguero, José Julián, Silva, Iria, Coto, Eliecer, Avanzas, Pablo, Morís, César, Gómez, Juan, Lorca, Rebeca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9506491/
https://www.ncbi.nlm.nih.gov/pubmed/36143383
http://dx.doi.org/10.3390/life12091346