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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Zhongguo Dang Dai Er Ke Za Zhi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 中国当代儿科杂志编辑部 2020
Pynciau:
Mynediad Ar-lein: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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