Cargando…
A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene
PURPOSE: Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we summarize the clinical characteristics and gene mutat...
Autores principales: | Wei, Lin, Han, Xiao, Li, Xue, Han, Bingjuan, Nie, Wenying |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396371/ https://www.ncbi.nlm.nih.gov/pubmed/34466018 http://dx.doi.org/10.2147/PGPM.S320128 |
Ejemplares similares
-
Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
por: Han, Xiao, et al.
Publicado: (2023) -
Mowat-Wilson syndrome
por: Garavelli, Livia, et al.
Publicado: (2007) -
A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome
por: Hu, Yuan, et al.
Publicado: (2020) -
ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises
por: Birkhoff, Judith C., et al.
Publicado: (2021) -
Anaesthetic management of Mowat–Wilson syndrome
por: Deshmukh, Amit Sudhir, et al.
Publicado: (2016)