Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
|
7897628 |
1995 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Pax3 functions at a nodal point in melanocyte stem cell differentiation.
|
15729346 |
2005 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
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 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome).
|
30173992 |
2018 |
Klein's Syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
|
12949970 |
2003 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
|
28690861 |
2017 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
|
27759048 |
2016 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
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 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
|
11683776 |
2001 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome).
|
30173992 |
2018 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
|
8447316 |
1993 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
Klein's Syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
|
8447316 |
1993 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
|
9500554 |
1998 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
A new missense mutation in the paired domain of the mouse Pax3 gene.
|
28381738 |
2017 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
|
8447316 |
1993 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
|
12949970 |
2003 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
|
8447316 |
1993 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.
|
18983540 |
2008 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
|
18553554 |
2008 |
Klein's Syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
|
28043919 |
2017 |
Klein's Syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
Klein's Syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
|
12949970 |
2003 |