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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Detalhes bibliográficos
Publicado no:SAGE Open Med Case Rep
Main Authors: Umrigar, Ayesha, Musso, Amanda, Mercer, Danielle, Hurley, Annette, Glausier, Cassondra, Bakeer, Mona, Marble, Michael, Hicks, Chindo, Tsien, Fern
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5734434/
https://ncbi.nlm.nih.gov/pubmed/29276601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X17745904
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