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Phenotype variability of dystonia in monozygotic twins

โœ Scribed by Albanese, A.; Bentivoglio, A. R.; Del Grosso, N.; Cassetta, E.; Frontali, M.; Valente, E. M.; Tonali, P.


Book ID
113040485
Publisher
Springer
Year
2000
Tongue
English
Weight
31 KB
Volume
247
Category
Article
ISSN
0340-5354

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## Mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene on chromosome 22q12 cause a clinically variable autosomal dominant syndrome characterized by bilateral vestibular schwannomas (VSs), other nervous system tumors, and early onset lenticular cataracts. We studied three pairs of mono