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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...
Shranjeno v:
| izdano v: | J Clin Lab Anal |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7521239/ https://ncbi.nlm.nih.gov/pubmed/32519765 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23413 |
| Oznake: |
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