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

Hong-Yan Liu Ji-Fang Xiao Jia Huang Yue Wang Dong Wu Tao Li Hong-Dan Wang

中华医学杂志（英文版）2017，Vol.130Issue(1)：104-107,4.

中华医学杂志（英文版）2017，Vol.130Issue(1)：104-107,4.DOI:10.4103/0366-6999.196568

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

Hong-Yan Liu ¹Ji-Fang Xiao ²Jia Huang ²Yue Wang ³Dong Wu ¹Tao Li ¹Hong-Dan Wang¹

作者信息

1. Department of Medical Genetics Institute, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China
2. McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005, China
3. Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China
折叠

摘要

关键词

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

Key words

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

引用本文复制引用

Hong-Yan Liu,Ji-Fang Xiao,Jia Huang,Yue Wang,Dong Wu,Tao Li,Hong-Dan Wang..Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family[J].中华医学杂志（英文版）,2017,130(1):104-107,4.

基金项目

This study was supported in part by grants from the Young Scientists Foundation of China (No.81501336),the Foundation and Cutting-Edge Research Projects of Henan Province Science and Technology Department (No.132300410377),and the Medical Science and Technology Research Projects of Henan Provincial Health Bureau (No.201601019 （No.81501336）

No.201302021). （）

中华医学杂志（英文版）

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ISSN：0366-6999

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