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1例进行性家族性肝内胆汁淤积症2型婴儿的临床和遗传学分析
Progressive familial intrahepatic cholestasis type Ⅱ (PFIC-2) is an autosomal recessive disorder caused by biallelic variants of ABCB11 gene. This paper reports the clinical and laboratory features of a pediatric patient with PFIC-2. The patient was a 2.4-month-old male infant with jaundice and hepa...
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| 出版年: | Zhongguo Dang Dai Er Ke Za Zhi |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
中国当代儿科杂志编辑部
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389172/ https://ncbi.nlm.nih.gov/pubmed/30210030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.09.013 |
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