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Usher syndrome, type 2C

Known as: USH2C, Usher Syndrome, Type IIC 
National Institutes of Health

Related topics

Related topics

3 relations
ADGRV1, GLN2301TERAutosomal recessive inheritance

Broader (1)

Usher Syndrome

Papers overview

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2018
2018
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
BackgroundUsher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing… 
2017
2017
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene… 
2014
2014
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II
2009
2009
GPR98 mutations cause Usher syndrome type 2 in males
Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female… 
2009
2009
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
Background: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes… 
2007
2007
Phenotype characteristics of patients with Usher syndrome type 2
Purpose: To investigate whether USH2A and USH2C genotypes are clinically distinguishable based on data described in the… 
Highly Cited
2005
Highly Cited
2005
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.
Highly Cited
2005
Highly Cited
2005
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
PURPOSE To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused… 
2002
2002
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome
Usher syndrome (USH) is an autosomal recessive disorder characterised by hearing impairment and retinitis pigmentosa (RP). The… 
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