USHER SYNDROME COALITION
Usher Syndrome Coalition | usher-syndrome.org | Westford, MA | 800.946.9203 Mission The Usher Syndrome Coalition’s mission is to raise...
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Apr 30, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD).
Jul 9, 2020
A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome
Lucy S. French, Carla B. Mellough, Fred K. Chen, and Livia S. Carvalho | Frontiers Cell. Neuroscience | 09 July 2020 | Sec. Cellular...
Dec 15, 2018
Retinitis Pigmentosa and Allied Disorders
From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.
May 3, 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon
and underlies severe Usher syndrome on the Arabian Peninsula Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine...
Aug 31, 2015
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .
Dec 1, 2007
Hearing Loss in Children
JOHN A. GERMILLER MD, PhD | Pediatric Otolaryngology | 2007 | doi.org/10.1016/B978-0-323-04855-2.50009-5 Usher Syndrome Usher syndrome is...
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