Genetic testing for Usher syndrome

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, US...

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Bibliographic Details
Main Authors: Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.34