Lisa Pavinato

Feb 12, 2024 | nature.com | Stefano Giuseppe Caraffi |Kathleen Rooney |Giorgia Mandrile |Alfredo Brusco |Lisa Pavinato |Verdiana Pullano | +4 more

AbstractMowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phenotype and other anomalies, such as short stature, Hirschsprung disease, brain and heart defects. Despite some recognizable features, MOWS rarity and phenotypic variability may complicate its diagnosis, particularly in the neonatal period.