Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

被引：0

作者：

Liu HongYan

Xiao JiFang ^{[1
]}

Huang Jia ^{[1
]}

Wang Yue ^{[2
]}

Wu Dong ^{[3
]}

Li Tao ^{[3
]}

Wang HongDan ^{[3
]}

Guo LiangJie ^{[3
]}

Guo QianNan ^{[3
]}

Xiao Hai ^{[3
]}

Lyu Xue ^{[3
]}

Yu ZhengHong ^{[4
]}

机构：

[1] Department of Gynecology and Obstetrics, People’s Hospital of Zhengzhou University (Henan Provincial People’s Hospital), Zhengzhou, Henan 450003, China

[2] Department of Medical Genetics Institute, People’s Hospital of Zhengzhou University (Henan Provincial People’s Hospital), Zhengzhou, Henan 450003, China

[3] Department of Orthopaedics, People’s Hospital of Zhengzhou University (Henan Provincial People’s Hospital), Zhengzhou, Henan 450003, China

[4] McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China

来源：

中华医学杂志英文版 | 2017年 / 130卷 / 01期

关键词：

Avascular Necrosis of the Femoral Head; Cartilage Oligomeric Matrix Protein; Collagen Type II Alpha 1; Differential Diagnosis; Whole-exome Sequencing;

D O I：

暂无

中图分类号：

R681.1 [骨发育不良症];

学科分类号：

1002 ; 100210 ;

摘要：

<正>

引用

页码：104 / 107

页数：4

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