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新复合杂合突变致婴儿型低磷酸酯酶症1例及其家系分析
This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty,...
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| Yayımlandı: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
中国当代儿科杂志编辑部
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389124/ https://ncbi.nlm.nih.gov/pubmed/28506345 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.05.012 |
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