Article
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.
The Laryngoscope - 1 Jun 2021
Brodie Kara D, Moore Anthony T, Slavotinek Anne M, Meyer Anna K, Nadaraja Garani S, Conrad David E, Weinstein Jacqueline E, Chan Dylan K
Abstract excerpt
OBJECTIVES: Hearing-loss gene panel testing (HLGPT) is increasingly accessible as a first-line test in determining the etiology of sensorineural hearing loss (SNHL) in children. A major advantage of HLGPT is early identification of syndromic forms of SNHL, especially Usher syndrome, prior to the development of overt syndromic phenotype, which may impact management and counseling. Here, we describe early ocular...
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