12881_2017_484_MOESM1_ESM.tif (1.39 MB)
Additional file 1: Figure S2. of HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
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posted on 2017-10-26, 05:00 authored by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hong, Sung Cho, Dong-Kyu JinSequencing results of the patient and his parents with reverse primer. As the HDR mutation observed in the affected child was not present in any of the parents, they represent de novo mutations. (TIFF 1424Â kb)