Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.PMID:38041579 | DOI:10.1111/cge.14466

Source: Clinical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Claudia Strafella Luca Colantoni Domenica Megalizzi Giulia Trastulli Emma Proietti Piorgo Guido Primiano Cristina Sancricca Giulia Ricci Gabriele Siciliano Carlo Caltagirone Massimiliano Filosto Giorgio Tasca Enzo Ricci Raffaella Cascella Emiliano Giardin Source Type: research