Research for a better life.

Representation of ZEB2 gene exons and introns with encoded protein structure with six domains having known protein functions and multiple non-domain regions of linker polypeptides. Image provided and modified from St. Peter et al. [8] with permission.

ZEB2 Syndrome Variants and Clinical Outcomes

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 […]

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions

ZEB2 Gene Variants and Mowat-Wilson Syndrome Explained

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 […]

Research Article: Phenotype and Genotype of 87 Patients with MWS and Recommendations for Care

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data for 87 patients with a molecularly confirmed diagnosis of MWS, including 62 previously reported patients and 25 unpublished cases, and compared them with patients previously reported by other authors.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 […]

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