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Deafness, Autosomal Recessive 23

Known as: DFNB23 
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal recessive inheritanceSensorineural Hearing Loss (disorder)

Papers overview

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2015
2015
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
2013
2013
Linkage Analysis For Dfnb23 / Usher1f Locus
Consanguineous families with multiple affected individuals of different casts were studied for the molecular basis of hereditary… 
2012
2012
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I
Purpose PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of… 
2010
2010
Haplotype Analysis of Seven Non-Syndromeic Autosomal Recessive Hearing Loss Loci in Iranian Families
Objective: Hearing impairment is the most frequent sensorineural defect in 2 forms, syndromic and non–syndromic. The aim of this… 
2009
2009
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual… 
2009
2009
Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene.
Protocadherin-15 (Pcdh15) plays important roles in the morphogenesis and cohesion of stereocilia bundles and in the maintenance… 
Highly Cited
2008
Highly Cited
2008
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome… 
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