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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...
Tallennettuna:
| Julkaisussa: | J Clin Lab Anal |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
John Wiley and Sons Inc.
2020
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| Aiheet: | |
| Linkit: | 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 |
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