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).

Lucy S. French, Carla B. Mellough, Fred K. Chen, and Livia S. Carvalho | Frontiers Cell. Neuroscience | 09 July 2020 | Sec. Cellular...

From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.

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

The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .

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.

JOHN A. GERMILLER MD, PhD | Pediatric Otolaryngology | 2007 | doi.org/10.1016/B978-0-323-04855-2.50009-5 Usher Syndrome Usher syndrome is...