Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less e...

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Detalles Bibliográficos
Autores principales: Umrigar, Ayesha, Musso, Amanda, Mercer, Danielle, Hurley, Annette, Glausier, Cassondra, Bakeer, Mona, Marble, Michael, Hicks, Chindo, Tsien, Fern
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734434/
https://www.ncbi.nlm.nih.gov/pubmed/29276601
http://dx.doi.org/10.1177/2050313X17745904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734434/
https://www.ncbi.nlm.nih.gov/pubmed/29276601
http://dx.doi.org/10.1177/2050313X17745904

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