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Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

✍ Scribed by Hitoshi Osaka; Atsushi Takagi; Yu Tsuyusaki; Takahito Wada; Mizue Iai; Sumimasa Yamashita; Hiroko Shimbo; Hirotomo Saitsu; Gajja S. Salomons; Cornelis Jakobs; Noriko Aida; Shinka Toshihiro; Tomiko Kuhara; Naomichi Matsumoto


Book ID
116989741
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
736 KB
Volume
106
Category
Article
ISSN
1096-7192

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πŸ“œ SIMILAR VOLUMES


Dystonia in a patient with deletion of 1
✍ Dr. Mark Forrest Gordon; Susan Bressman; Mitchell F. Brin; Deborah de Leon; Doro πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 347 KB

## Abstract This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q‐ syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36‐year‐old woman with an 18q terminal deletion [Kary