Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. U...

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Bibliographic Details
Main Authors: Giuseppe Limongelli, Marcella Nunziato, Cristina Mazzaccara, Mariano Intrieri, Valeria DArgenio, Maria Valeria Esposito, Emanuele Monda, Federica Di Maggio, Giulia Frisso, Francesco Salvatore
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/11/5/524