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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
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 |