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C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

✍ Scribed by AM Alazami; SA Schneider; D Bonneau; L Pasquier; M Carecchio; M Kojovic; K Steindl; M De Kerdanet; MM Nezarati; KP Bhatia; B Degos; E Goh; FS Alkuraya


Book ID
110889048
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
589 KB
Volume
78
Category
Article
ISSN
0009-9163

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Dystonia in the Woodhouse Sakati syndrom
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## Abstract Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural deafness and extrapyramidal features. Movement disorders mainly consist of dystonia and chore