|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pediatric failure to thrive
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Global developmental delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
|
9398842 |
1997 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in PDS causes non-syndromic recessive deafness.
|
9500541 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
|
10190331 |
1999 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
|
10602116 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
|
10700480 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the pendrin gene associated with Pendred's syndrome.
|
10718825 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
|
10878664 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
|
11375792 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
12676893 |
2003 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
|
14508505 |
2003 |