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Alagille综合征患儿1例临床和遗传学分析：一个包含JAG1基因的染色体新中间缺失的识别
Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital...
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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
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389279/ https://ncbi.nlm.nih.gov/pubmed/29046208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.10.013 |
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