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1例遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征幼儿的临床特征及COL4A1基因型研究
Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and m...
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| Publicado no: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
中国当代儿科杂志编辑部
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389900/ https://ncbi.nlm.nih.gov/pubmed/31416498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.08.004 |
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