About 140 results

ALLMedicine™ Mowat-Wilson Syndrome Center

Research & Reviews  56 results

Long-term outcome of consecutive case series of congenital isolated agenesis of corpus ...
Ultrasound in Obstetrics & Gynecology : the Official Jour... Lanna M, Scelsa B et. al.

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...

Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.
BMJ Case Reports; Musaad W, Lyons A et. al.

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...

Targeted chromatin conformation analysis identifies novel distal neural enhancers of ZE...
Human Molecular Genetics; Birkhoff JC, Brouwer RWW et. al.

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...

Mowat-Wilson syndrome: growth charts.
Orphanet Journal of Rare Diseases; Ivanovski I, Djuric O et. al.

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...

A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.
Journal of Clinical Laboratory Analysis; Hu Y, Peng Q et. al.

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...

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