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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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Библиографические подробности
Опубликовано в: :J Mov Disord
Главные авторы: Hdiji, Olfa, Turki, Emna, Bouzidi, Nouha, Bouchhima, Imen, Damak, Mariem, Bohlega, Saeed, Mhiri, Chokri
Формат: Artigo
Язык:Inglês
Опубликовано: The Korean Movement Disorders Society 2016
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886203/
https://ncbi.nlm.nih.gov/pubmed/27240811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.16003
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