Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip

Both Pendred syndrome (PS) and nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA) are autosomal recessive disorders caused by SLC26A4 pathogenic variants. The spectrum of SLC26A4 pathogenic variants varies with the ethnic background. Among the patients with EVA in Okinawa, 94% had...

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Detalles Bibliográficos
Autores principales: Ganaha, Akira, Hishinuma, Eiji, Kaname, Tadashi, Hiratsuka, Masahiro, Kondo, Shunsuke, Tono, Tetsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880462/
https://www.ncbi.nlm.nih.gov/pubmed/35207372
http://dx.doi.org/10.3390/jcm11041099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880462/
https://www.ncbi.nlm.nih.gov/pubmed/35207372
http://dx.doi.org/10.3390/jcm11041099

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