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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.

Autor: Umrigar A; Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Musso A; Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA.; Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Mercer D; Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Hurley A; Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Glausier C; Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Bakeer M; Department of Clinical Laboratory Sciences, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Marble M; Department of Pediatrics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA.; Division of Clinical Genetics, Children's Hospital of New Orleans, New Orleans, LA, USA., Hicks C; Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA., Tsien F; Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA.

Publikováno v: SAGE open medical case reports [SAGE Open Med Case Rep] 2017 Dec 11; Vol. 5, pp. 2050313X17745904. Date of Electronic Publication: 2017 Dec 11 (Print Publication: 2017).