Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associa...

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Detalles Bibliográficos
Autores principales: Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saunders 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427329/
https://www.ncbi.nlm.nih.gov/pubmed/32553920
http://dx.doi.org/10.1016/j.ejpn.2020.05.006

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