Associated Papers
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L et al.
Hgg Advances, 2024
38571311 (PubMed )
Supplement: mmc2.xlsx › Table_S2_
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.
Hellwig M et al.
Acta Neuropathologica, 2019
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M et al.
Human Molecular Genetics, 2012
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Marangi G et al.
American Journal of Medical Genetics. Part A, 2012
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S et al.
Human Mutation, 2012
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