10.6084/m9.figshare.6338468.v1
Noriomi Suzuki
Noriomi
Suzuki
Hideki Mutai
Hideki
Mutai
Fuyuki Miya
Fuyuki
Miya
Tatsuhiko Tsunoda
Tatsuhiko
Tsunoda
Hiroshi Terashima
Hiroshi
Terashima
Noriko Morimoto
Noriko
Morimoto
Tatsuo Matsunaga
Tatsuo
Matsunaga
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
Springer Nature
2018
SOX10
Waardenburg syndrome
Nonsense mutation
Delayed myelination
Seizure attack
2018-05-23 05:00:00
Journal contribution
https://springernature.figshare.com/articles/journal_contribution/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_SOX10/6338468
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)