ALLMedicine™ Mowat-Wilson Syndrome Center

Mar 12th, 2022 - To describe the long-term outcome of children with prenatally diagnosed isolated complete agenesis of the corpus callosum (cACC). In this single-center case series, we reviewed retrospectively the charts of fetuses referred to our fetal therapy un...

Feb 11th, 2022 - A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone's complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon af...

Jul 7th, 2020 - The transcription factor zinc finger E-box binding protein 2 (ZEB2) controls embryonic and adult cell fate decisions and cellular maturation in many stem/progenitor cell types. Defects in these processes in specific cell types underlie several asp...

Jun 15th, 2020 - Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malf...

Jun 11th, 2020 - Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of the ZEB2 gene. We investigated the genetic causes of MWS in a 14-y...