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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.
Umrigar A, Musso A, Mercer D, Hurley A, Glausier C, Bakeer M, Marble M, Hicks C, Tsien F. Umrigar A, et al. Among authors: glausier c. SAGE Open Med Case Rep. 2017 Dec 11;5:2050313X17745904. doi: 10.1177/2050313X17745904. eCollection 2017. SAGE Open Med Case Rep. 2017. PMID: 29276601 Free PMC article.