A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome

BACKGROUND: Mowat‐Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of the ZEB2 gene. We investigated the genetic causes of MWS in a 14‐year‐old girl who had characteristic featu...

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Detalles Bibliográficos
Autores principales: Hu, Yuan, Peng, Qi, Ma, Keze, Li, Siping, Rao, Chunbao, Zhong, Baimao, Lu, Xiaomei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521239/
https://www.ncbi.nlm.nih.gov/pubmed/32519765
http://dx.doi.org/10.1002/jcla.23413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521239/
https://www.ncbi.nlm.nih.gov/pubmed/32519765
http://dx.doi.org/10.1002/jcla.23413

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