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Development of in‐house genetic screening for pediatric hearing loss

OBJECTIVES: To evaluate the efficiency of in‐house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL). METHODS: Retrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing...

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Detalles Bibliográficos
Autores principales: Doerfer, Karl W., Sander, Tara, Konduri, Girija G., Friedland, David R., Kerschner, Joseph E., Runge, Christina L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314470/
https://www.ncbi.nlm.nih.gov/pubmed/32596493
http://dx.doi.org/10.1002/lio2.379