Autor: Jing Chen
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Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
BackgroundHeterozygous variants in the ZEB2 gene are known to cause Mowat–Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various…