Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.
Ami HemmiKen OkamuraRyushi TazawaYuko AbeMasahiro HayashiShuji IzumiJun TohyamaYutaka ShimomuraYutaka HozumiTamio SuzukiPublished in: The Journal of dermatology (2017)