Condition: PITT-HOPKINS SYNDROME
rs1057519592 in
TCF4 gene and
PITT-HOPKINS SYNDROME
PMID 22777675 2012 Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 20184619 2010 Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
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 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 28631899 2017 Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
PMID 24077912 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
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 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.