Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
|
28807867 |
2017 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
|
28807867 |
2017 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
|
27072915 |
2016 |
Dysmorphic features
|
0.120 |
AlteredExpression
|
disease |
BEFREE |
Although validation in additional patients is required, our findings suggest that the dysmorphic features and severe intellectual disability characteristic of PTHS are partially rescued by overexpression of those short TCF4 transcripts encoding a nuclear localization signal, a transcription activation domain, and the basic helix-loop-helix domain.
|
27179618 |
2016 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
|
27072915 |
2016 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
|
22335494 |
2013 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
|
22335494 |
2013 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations.
|
23248353 |
2013 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
|
22045651 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
|
22712893 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
|
23185296 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
|
22460224 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
|
22712893 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
|
22460224 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
|
22678594 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
|
22678594 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
|
23185296 |
2012 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
|
22045651 |
2012 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
|
21245398 |
2011 |
Dysmorphic features
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
|
21245398 |
2011 |
Dysmorphic features
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
|
21533127 |
2011 |