Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation

OBJECTIVES: We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL). METHODS: Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than...

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Detalles Bibliográficos
Autores principales: Lee, Sang-Yeon, Joo, Kwangsic, Oh, Jayoung, Han, Jin Hee, Park, Hye-Rim, Lee, Seungmin, Oh, Doo-Yi, Woo, Se Joon, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248602/
https://www.ncbi.nlm.nih.gov/pubmed/31674169
http://dx.doi.org/10.21053/ceo.2019.00990

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