VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
|
27834299 |
2017 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births).
|
26332872 |
2016 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
|
25784454 |
2015 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
|
25548624 |
2014 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.
|
23394314 |
2014 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
|
23154523 |
2013 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
|
22488974 |
2012 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
|
21045959 |
2010 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
|
20803643 |
2010 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
|
19623037 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
|
19449419 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
|
19036739 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
|
19282774 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
|
19282774 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
|
19036739 |
2009 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
|
18478600 |
2008 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
A familial case of popliteal pterygium syndrome.
|
18617879 |
2008 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
|
17122170 |
2006 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
|
16160700 |
2005 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Gene symbol: IRF6. Disease: Van der Woude syndrome.
|
15300989 |
2004 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
|
15472655 |
2004 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the IRF6 gene for Van der Woude syndrome.
|
12920575 |
2003 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.
|
14640121 |
2003 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
|
14618417 |
2003 |
VAN DER WOUDE SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
|
12219090 |
2002 |