Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.004
Abstract: Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS… read more here.
Keywords: pitt hopkins; molecular syndromology; tcf4; hopkins syndrome ... See more keywords
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of neurology"
DOI: 10.1111/ene.15104
Abstract: BACKGROUND Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This… read more here.
Keywords: hopkins syndrome; pitt hopkins; long term; variants tcf4 ... See more keywords
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
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DOI: 10.3390/genes11060596
Abstract: Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in… read more here.
Keywords: clinical molecular; pitt hopkins; syndrome clinical; hopkins syndrome ... See more keywords