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Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.
Nat Genet. 2003 Nov;35(3):264-9. doi: 10.1038/ng1255. Epub 2003 Oct 12.
Nat Genet. 2003.
PMID: 14556008
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M.
Delague V, et al.
Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z.
Neurogenetics. 2002.
PMID: 12030328
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