A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis-Reference-Cited by-同舟云学术

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

Published:2020-05 Issue:5 Volume:47 Page:281-284
ISSN:1673-8527
Container-title:Journal of Genetics and Genomics
language:en
Short-container-title:Journal of Genetics and Genomics

Author:

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

Funder

National High Technology Research and Development Program

Publisher

Elsevier BV

Subject

Genetics,Molecular Biology

Reference18 articles.

1. Predicting functional effect of hu-man missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

2. Regulation of limb patterning by extracellular microfibrils;Arteaga-Solis;J. Cell Biol.,2001

3. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am. J. Med. Genet.,2000

4. Marfan syndrome: a clinical update;Bitterman;J. Am. Acad. Orthop. Surg.,2017

5. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders;Downing;Cell,1996

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families;Molecular Genetics and Metabolism Reports;2024-12

2. A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly;Biochemical Genetics;2023-11-14

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