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3例Mowat-Wilson综合征患儿的临床特点及遗传学分析
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. Thi...
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| izdano v: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
中国当代儿科杂志编辑部
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389425/ https://ncbi.nlm.nih.gov/pubmed/31104665 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.05.014 |
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