A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preim

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Jiaxin Li1, 1,
Yuqian Wang2, 3, 1,
Xiaohui Zhu2, 3,
Yanli Nie2, 3,
Ying Kuo2, 3,
Shuo Guan2, 3,
Jin Huang2, 3,
Ying Lian2, 3,
Yangyu Zhao2, 3,
Rong Li2, 3,
Yuan Wei4,
Jie Qiao5, 6, 7, 8,
Liying Yan9, 10
1Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
2Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
3Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
4Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
5Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
6Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
7Peking-Tsinghua Center for Life Sciences, Peking University, Beijing 100191, China
8Beijing Advanced Innovation Center for Genomics, Peking University, Beijing 100191, China
9Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
10Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China

More InformationCorresponding author: E-mail address: yanliyingkind@aliyun.com (Liying Yan)
Publish Date:2020-05-25

Abstract

PDF全文下载地址:

http://www.jgenetgenomics.org/article/exportPdf?id=a269bb96-50f6-4d09-b262-d6b442536b39&language=en

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