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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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Paediatr Neurol
Egile Nagusiak: Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Saunders 2020
Gaiak:
Article
Sarrera elektronikoa: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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