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Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized i...

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Detalles Bibliográficos
Autores principales: Hdiji, Olfa, Turki, Emna, Bouzidi, Nouha, Bouchhima, Imen, Damak, Mariem, Bohlega, Saeed, Mhiri, Chokri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorders Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886203/
https://www.ncbi.nlm.nih.gov/pubmed/27240811
http://dx.doi.org/10.14802/jmd.16003