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CCDC22基因变异导致Ritscher-Schinzel综合征1例
A boy, aged 1 month, attended the hospital due to feeding difficulty and hypotonia. He had unusual facial features (prominent forehead, hypertelorism, ptosis of the lateral canthus, thin upper lip, and low-set ears), hypotonia, and a decreased score of neonatal behavioral neurological assessment. He...
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| Pubblicato in: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
中国当代儿科杂志编辑部
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7568997/ https://ncbi.nlm.nih.gov/pubmed/33059814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2005168 |
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