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

J Genet Genomics. 2020 May 20;47(5):281-284. doi: 10.1016/j.jgg.2020.03.007. Epub 2020 May 8.

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; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China.
³ Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China; Peking-Tsinghua Center for Life Sciences, Peking University, Beijing 100191, China; Beijing Advanced Innovation Center for Genomics, Peking University, Beijing 100191, China.
⁴ Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China. Electronic address: yanliyingkind@aliyun.com.

No abstract available

Publication types