This comprehensive review examines the relationship between ZEB2 gene pathogenic variants and their impact on clinical manifestations in Mowat-Wilson Syndrome (MWS). By analyzing genetic data from individuals worldwide, the authors reveal how specific mutations influence various developmental systems, highlighting crucial insights into prognosis, care strategies, and future research directions. Dive into this detailed study to […]
This recent study provides a detailed review of the ZEB2 gene variants responsible for Mowat-Wilson Syndrome (MWS), highlighting their impact on protein function and interaction within the body. With a focus on the genetic mechanisms underlying MWS, the article discusses a novel variant identified in a young patient, alongside insights into how different genetic changes […]
This study , published by the American College of Medical Genetics and Genomics, analyses clinical data for 87 patients with a molecularly confirmed diagnosis of MWS, including 62 previously reported patients and 25 unpublished cases, and compared them with patients previously reported by other authors. The data was obtained through collaborations involving clinicians from various countries. Such […]
Responses collected between November 26, 2007 and May 28, 2012. Here are the results of the Behavior Survey for individuals with MWS. Disclaimer – The information compiled below is by no means a scientific study but an informal survey. It is information compiled from the responses supplied to us from a survey of the members or our […]
Study conducted in 2007, published 2013. Thank you to all the people with MWS, their families, and their carers who participated in the study. Your time filling out questionnaires and completing the interviews is greatly appreciated. Many of you also expressed such enthusiasm for the study, which was very encouraging for those of us involved in […]
Dear parents, dear caregivers, Bladder and bowel control are an important milestone in every child’s development and are relevant for independence and social acceptance. Elimination disorders (bedwetting, daytime wetting, soiling) can be stressful and demanding for parents and caregivers, although they can be treated effectively. So far, no studies on incontinence in persons with Mowat-Wilson […]
January 22, 2015 We are excited to have this opportunity to discuss our research directions and plans for Mowat-Wilson Syndrome (MWS). Our research efforts are focused on a better fundamental understanding of MWS, at the cellular level, and to identify the specific molecular defects that cause this disorder to test treatment options. The important work […]
