First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been d...

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Detalles Bibliográficos
Autores principales: Tronina, Agnieszka, Świerczyńska, Marta, Filipek, Erita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864246/
https://www.ncbi.nlm.nih.gov/pubmed/36676725
http://dx.doi.org/10.3390/medicina59010101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864246/
https://www.ncbi.nlm.nih.gov/pubmed/36676725
http://dx.doi.org/10.3390/medicina59010101

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