Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers

INTRODUCTION: DFNA9 is characterized by adult-onset hearing loss and evolution toward bilateral vestibulopathy (BVP). The genotype-phenotype correlation studies were conducted 15 years ago. However, their conclusions were mainly based on symptomatic carriers and the vestibular data exclusively deriv...

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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/PMC8542091/
https://www.ncbi.nlm.nih.gov/pubmed/34369417
http://dx.doi.org/10.1097/AUD.0000000000001070

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