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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
2014
Orphanet Journal of Rare Diseases
We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. Methods: We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess familial segregation of rare variants identified in the probands and in a third, apparently unrelated family with
doi:10.1186/1750-1172-9-15
pmid:24468074
pmcid:PMC3937150
fatcat:lml3kxobzfbkvkwnrvbygjs5nq