|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
|
28807867 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
|
27072915 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
|
27072915 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
|
22335494 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
|
22335494 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
|
23185296 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
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 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
|
22678594 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
|
22712893 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
|
22045651 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
|
22045651 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
|
23185296 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
|
22678594 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
|
22712893 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
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 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
|
21671391 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
|
21245398 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
|
21671391 |
2011 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
|
21533127 |
2011 |