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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Detalhes bibliográficos
Publicado no:Eur J Paediatr Neurol
Main Authors: Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella
Formato: Artigo
Idioma:Inglês
Publicado em: Saunders 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7427329/
https://ncbi.nlm.nih.gov/pubmed/32553920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejpn.2020.05.006
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