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_S1
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.
Sirp A et al.
The Journal of Biological Chemistry, 2021
Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.
Zhao T et al.
Neurogenetics, 2021
Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.
Yamada H et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.
Hellwig M et al.
Acta Neuropathologica, 2019
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S et al.
American Journal of Human Genetics, 2014
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
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