PMID 26087656 2015 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
PMID 27072915 2016 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
PMID 22678594 2012 Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
PMID 22335494 2013 Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
PMID 23185296 2012 A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
PMID 22460224 2012 Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
PMID 22712893 2012 Development, cognition, and behaviour in Pitt-Hopkins syndrome.
PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
PMID 18728071 2008 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
PMID 17436255 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
PMID 21533127 2011 Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
PMID 17478476 2007 Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
PMID 21245398 2011 Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
PMID 18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
PMID 20825314 2010 E2-2 protein and Fuchs's corneal dystrophy.
PMID 19938247 2009 Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
PMID 18627065 2008 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
PMID 17436254 2007 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
rs1057521070 in
TCF4 gene and
Muscle hypotonia
PMID 19938247 2009 Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
PMID 21533127 2011 Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
PMID 18728071 2008 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
PMID 17478476 2007 Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
PMID 27072915 2016 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
PMID 18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
PMID 22335494 2013 Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
PMID 20825314 2010 E2-2 protein and Fuchs's corneal dystrophy.
PMID 18627065 2008 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
PMID 22712893 2012 Development, cognition, and behaviour in Pitt-Hopkins syndrome.
PMID 23185296 2012 A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
PMID 26087656 2015 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
PMID 22678594 2012 Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
PMID 21245398 2011 Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
PMID 17436255 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
PMID 17436254 2007 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
PMID 22460224 2012 Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.