Eur J Med Genet 2022 Apr 18;65(4):104458. Epub 2022 Feb 18.
Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France; Lyon Neuroscience Research Center, GENDEV Team, CNRS UMR 5292, INSERM U1028, UCBL1, Bron, France; Université Claude Bernard Lyon 1, France. Electronic address:
TCF4 gene (18q21.1) encodes for a transcription factor with multiple isoforms playing a critical role during neurodevelopment. Molecular alterations of this gene are associated with Pitt-Hopkins syndrome, a severe condition characterized by intellectual disability, specific facial features and autonomic nervous system dysfunction. Read More