Add to ORKGABSTRACT Hearing loss is a common congenital disorder frequently associated with mutations in the connexin 26 gene (GJB2). However, recent studies found a 342-kb deletion in another gene, connexin 30 (GJB6) that causes non-syndromic recessive hearing loss in either a homozygous monogenic inheritance of Cx30 deletion or digenic inheritance of Cx30 deletion and a Cx26 mutation. The objective of this study was to screen for the 342-kb deletion in Cx30 gene in patients with non-syndromic hearing loss from Jordan. Two different PCR conditions were used to detect the 342-kb deletion of connexin 30 gene by amplifying the deletion breakpoints using specific primers. None of the patients with non-syndromic hearing loss was found to carry deletion in...
Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of ...
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than ...
Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for...
Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessiv...
The aim of this study was to describe the clinical features of hearing loss due to mutations on conn...
ABSTRACT Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and...
DFNB1 deafness, caused by mutations in the gene encoding connexin-26 (GJB2), is the most frequent su...
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q1...
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of thes...
Objective: Hereditary nonsyndromic deafness is an autosomal reces-sive condition in about 80 % of ca...
Objective: This study was performed to investigate the GJB2 (connexin 26) gene mutations that are th...
OBJECTIVE: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common...
In many world populations, mutations in the GJB2 gene (codifyng for Connexin 26) are the most common...
Published online: 17 December 1999Connexin 26 (GJB2) mutations lead to hearing loss in a significant...
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. Th...
Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of ...
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than ...
Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for...
Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessiv...
The aim of this study was to describe the clinical features of hearing loss due to mutations on conn...
ABSTRACT Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and...
DFNB1 deafness, caused by mutations in the gene encoding connexin-26 (GJB2), is the most frequent su...
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q1...
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of thes...
Objective: Hereditary nonsyndromic deafness is an autosomal reces-sive condition in about 80 % of ca...
Objective: This study was performed to investigate the GJB2 (connexin 26) gene mutations that are th...
OBJECTIVE: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common...
In many world populations, mutations in the GJB2 gene (codifyng for Connexin 26) are the most common...
Published online: 17 December 1999Connexin 26 (GJB2) mutations lead to hearing loss in a significant...
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. Th...
Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of ...
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than ...
Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for...