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DNMT3A基因相关Tatton-Brown-Rahman综合征1例报道并文献复习
This article reports the clinical and genetic features of a case of Tatton-Brown-Rahman syndrome (TBRS) caused by DNMT3A gene mutation. A girl, aged 8 months and 14 days, had the clinical manifestations of psychomotor retardation, hypotonia, ventricular enlargement, and tonsillar hernia malformation...
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| Publicado no: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
中国当代儿科杂志编辑部
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7568996/ https://ncbi.nlm.nih.gov/pubmed/33059810 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2004078 |
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