MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Figure 1

The clinical data of the family with Tietz/Waardenburg syndrome. (a) Pedigree figure. Squares, male family members; circles, female members; arrow, proband. The (b) white hair, (c) blue-gray iris, and (d) albino skin of the proband. (e) The audiometry showed the proband suffered from sensorineural hearing loss. ASSR: audio steady-state response; PTA: pure-tone audiometry.

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