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1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析
The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched s...
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| Veröffentlicht in: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
中国当代儿科杂志编辑部
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389331/ https://ncbi.nlm.nih.gov/pubmed/29132461 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.11.006 |
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