Ontology highlight
ABSTRACT:
SUBMITTER: Boo SH
PROVIDER: S-EPMC3604269 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Boo Sung Hyun SH Song Min-Jung MJ Kim Hee-Jin HJ Cho Yang-Sun YS Chu Hosuk H Ko Moon-Hee MH Chung Won-Ho WH Kim Jong-Won JW Hong Sung Hwa SH
Clinical and experimental otorhinolaryngology 20111001 1
Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of ...[more]