Usher Syndrome Coalition’s mission raise awareness and accelerate research for most common genetic cause of combined deafness and blindness

Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD).

Peng Yong Sim, V Swetha E Jeganathan, Alan F. Wright, Peter Cackett | 2018 Summary This case report depicts the clinical course of a...

Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .

and underlies severe Usher syndrome on the Arabian Peninsula Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine...

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula...

describe the mutations in the CLRN1 gene in patients from two consanguineous Pakistani families diagnosed with arRP

To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant

Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness.