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Additional file 1: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

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posted on 2018-05-23, 05:00 authored by Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga
Hearing test results of the proband. OAE (a) and COR (b) audiometry revealed severe hearing loss. On the ABR test, neither the right (c) nor the left (d) ear responded to click sound stimulation at 105 dBnHL. Lt, left; Rt, right. (DOCX 295 kb)

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Grant-in0Aid for Clinical Research from National Hospital Organization

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    BMC Pediatrics

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    Keywords

    SOX10Waardenburg syndromeNonsense mutationDelayed myelinationSeizure attack

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