TMEM67基因和CNGB1基因突变致先天性肝纤维化合并视网膜色素变性症1例报告

杨帆; 王依柔; 余晓丹; 马雄; 王秀敏

doi:10.3969/j.issn.1001-5256.2020.07.029

TMEM67基因和CNGB1基因突变致先天性肝纤维化合并视网膜色素变性症1例报告

DOI: 10.3969/j.issn.1001-5256.2020.07.029

1. 上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科
2. 上海交通大学医学院附属仁济医院消化内科，上海市消化疾病研究所

详细信息

中图分类号: R575.2;R774.1
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出版历程
- 出版日期: 2020-07-20

Congenital hepatic fibrosis with retinitis pigmentosa caused by mutations of the TMEM67 gene and CNGB1 gene: A case report

1. Hereditary Endocrine and Metabolic Department, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
2. Department of Gastroenterology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Digestive Diseases, Shanghai 200001, China

摘要

摘要:
<正>先天性肝纤维化(congenital hepatic fibrosis,CHF)为一种罕见的遗传性疾病,是一种异质性疾病,TMEM67基因突变是肝纤维化的一个特异性表现; CHF的发病率在1/2万～1/4万,近亲结婚可导致子女的发病率增加[1]。视网膜色素变性是一组以进行性感光细胞及色素上皮功能丧失为共同表现的遗传性
- 突变 /
- 遗传性疾病,先天性 /
- 肝硬化 /
- 视网膜疾病
- mutation /
- genetic diseases,inborn /
- liver cirrhosis /
- retinal diseases

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参考文献(16)

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