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. 2020 Sep 24;6(6):e520. doi: 10.1212/NXG.0000000000000520

Figure. Pedigrees, electrophoregrams, and BEAR.

Figure

(A) Pedigree (A.a) and electrophoregrams (A.b) showing the homozygous p.(His357Argfs*15) variant in the proband and the heterozygous state of his parents. BEARs were absent with stimulation up to 90 and 105 dB (A.c). (B) Pedigree (B.a) of patient 2 and electrophoregrams (B.b) showing the homozygous p.(Gly128Val) variant in the proband and the heterozygous state of his parents. BEARs were also absent in patient 2 with stimulation up to 90 and 105 dB (B.c). BEAR = brainstem evoked auditory response.