×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
GENOMICS_ENGLAND
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
30173992 2018
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
30314436 2018
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
28690861 2017
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
A new missense mutation in the paired domain of the mouse Pax3 gene.
28381738 2017
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
28043919 2017
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
27759048 2016
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
25932447 2015
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
21965087 2012
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.
20095975 2010
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
20478267 2010
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.
18983540 2008
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CTD_human
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
18553554 2008
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Haplotype analysis placed the WS1 locus to a 45.74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35.
16971891 2006
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
Pax3 functions at a nodal point in melanocyte stem cell differentiation.
15729346 2005
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
12949970 2003
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I .
10779847 2000
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
9500554 1998
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3 .
9541113 1998
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
9452070 1998
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1 .
9067759 1997
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1 ) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6.
8845842 1996
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
The mutational spectrum in Waardenburg syndrome.
8589691 1995
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
Biomarker
CLINGEN
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
7897628 1995
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Further elucidation of the genomic structure of PAX3 , and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
7825605 1995
×
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
Waardenburg Syndrome Type 1
1.000
GeneticVariation
UNIPROT
Mutations in PAX3 that cause Waardenburg syndrome type I : ten new mutations and review of the literature.
8533800 1995