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MED13L综合征患者的临床表型及遗传学分析
A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, d...
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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/PMC7389282/ https://ncbi.nlm.nih.gov/pubmed/29046205 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.10.010 |
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