Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome

PURPOSE: Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Here, we summarize the...

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Detalles Bibliográficos
Autores principales: Han, Xiao, Zhang, Qianjuan, Wang, Chengcheng, Han, Bingjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10460601/
https://www.ncbi.nlm.nih.gov/pubmed/37641719
http://dx.doi.org/10.2147/PGPM.S414161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10460601/
https://www.ncbi.nlm.nih.gov/pubmed/37641719
http://dx.doi.org/10.2147/PGPM.S414161

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