A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis

Jiaxin Li; Yuqian Wang; Xiaohui Zhu; Yanli Nie; Ying Kuo; Shuo Guan; Jin Huang; Ying Lian; Yangyu Zhao; Rong Li; Yuan Wei; Jie Qiao; Liying Yan

doi:10.1016/j.jgg.2020.03.007

Volume 47 Issue 5

May 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(5): 281-284

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A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis

doi: 10.1016/j.jgg.2020.03.007

Jiaxin Li^{1, 1},
Yuqian Wang^{2, 3, 1},
Xiaohui Zhu^{2, 3},
Yanli Nie^{2, 3},
Ying Kuo^{2, 3},
Shuo Guan^{2, 3},
Jin Huang^{2, 3},
Ying Lian^{2, 3},
Yangyu Zhao^{2, 3},
Rong Li^{2, 3},
Yuan Wei⁴,
Jie Qiao^{5, 6, 7, 8},
Liying Yan^{9, 10}

1
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
2
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
3
Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
4
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
5
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
6
Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
7
Peking-Tsinghua Center for Life Sciences, Peking University, Beijing 100191, China
8
Beijing Advanced Innovation Center for Genomics, Peking University, Beijing 100191, China
9
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
10
Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China

More Information

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

Abstract

Jiaxin Li and Yuqian Wang contributed equally to this work.

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References(18)

References

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