Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

INTRODUCTION: DFNA9 is characterized by adult-onset progressive sensorineural hearing loss (SNHL) and vestibular impairment. More than 15 years ago, genotype-phenotype correlation studies estimated the initial age of hearing deterioration in the fourth to fifth decade (ranging from 32 to 43 years)....

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Detalles Bibliográficos
Autores principales: JanssensdeVarebeke, Sebastien P. F., Moyaert, Julie, Fransen, Erik, Bulen, Britt, Neesen, Celine, Devroye, Katrien, van de Berg, Raymond, Pennings, Ronald J. E., Topsakal, Vedat, Vanderveken, Olivier, Van Camp, Guy, Van Rompaey, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Clinical Trials
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542086/
https://www.ncbi.nlm.nih.gov/pubmed/34369416
http://dx.doi.org/10.1097/AUD.0000000000001099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542086/
https://www.ncbi.nlm.nih.gov/pubmed/34369416
http://dx.doi.org/10.1097/AUD.0000000000001099

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