Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
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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