Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5714631 | International Journal of Pediatric Otorhinolaryngology | 2017 | 20 Pages |
Abstract
This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Otorhinolaryngology and Facial Plastic Surgery
Authors
Xueling Wang, Xiao-Jiang Lin, Xiangrong Tang, Yong-Chuan Chai, De-Hong Yu, Dong-Ye Chen, Hao Wu,