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- Title
Germinal Mosaicism in a Family With BO Syndrome.
- Authors
Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi
- Abstract
The article presents a study which aims to clarify the existence of germinal mosaicism in two siblings with EYA1 mutation associated with branchiooto (BO) syndrome. The study concludes that germinal mosaicism caused the BO syndrome in these siblings based on the results of haplotype analysis, conducted to prove germinal mosaicism.
- Subjects
JAPANESE people; DISEASES; BRANCHIO-oto-renal syndrome; SIBLINGS; COMPUTED tomography; FAMILIES; MOSAICISM; GENETIC mutation; RESEARCH funding; RANDOMIZED controlled trials; HAPLOTYPES; DIAGNOSIS
- Publication
Annals of Otology, Rhinology & Laryngology, 2015, Vol 124, p118S
- ISSN
0003-4894
- Publication type
Article
- DOI
10.1177/0003489415575062