×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Novel mutations in the SLC26A4 gene.
22717225
2012
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
19786220
2009
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
21961810
2011
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Two missense mutations in SLC26A4 gene: a molecular and functional study.
20128824
2010
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Screening of SLC26A4 (PDS ) gene in Pendred's syndrome : a large spectrum of mutations in France and phenotypic heterogeneity.
15355436
2004
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
16053392
2005
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
23638949
2013
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
19287372
2009
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
18274916
2008
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
19040761
2008
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
17718863
2007
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
25991456
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
SLC26A4 /PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
15689455
2005
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
26752218
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Pendred syndrome , DFNB4 , and PDS /SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
11317356
2001
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.
17851929
2007
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
23965030
2013
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
16950989
2006
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
23336812
2013
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.
27240500
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
24949729
2014
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.
20583162
2010
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
24341454
2013
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
17718863
2007
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015