Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
|
28390600 |
2017 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
|
27240497 |
2016 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
|
24311220 |
2014 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Sox10 expressing cells in the lateral wall of the aged mouse and human cochlea.
|
24887110 |
2014 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.
|
24735604 |
2014 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
|
23643381 |
2013 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
MGD |
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.
|
20739296 |
2010 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
|
18348274 |
2008 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
|
18348274 |
2008 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
|
17999358 |
2007 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
|
12668617 |
2003 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
|
10973953 |
2000 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
|
10982026 |
2000 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
|
9425902 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.
|
9760192 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
|
9462749 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
|
9462749 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Third World aid.
|
2364338 |
1990 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Waardenburg Syndrome, Type 4c
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|