Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 7, 2024. (Total: 234175Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 4 (of 4 Records)

Query Trace: Congenital Contractural Arachnodactyly[original query]
A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.
Journal of genetics and genomics = Yi chuan xue bao 2020 8 47 (5): 281-284.
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 Liyi
Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.
European journal of medical genetics 2020 7 63 (10): 104008.
Maya Idit, Kahana Sarit, Agmon-Fishman Ifaat, Klein Cochava, Matar Reut, Berger Racheli, Shohat Mordechai, Basel-Salmon Lina, Sharony Reuven, Sagi-Dain Le
[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 4 37 (5): 497-500.
Wang Jieqiong, Xia Yanjie, Wang Yanan, Yang Fan, Kong Xiangdo
[A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 5 39 (5): 522-525.
Tan Xiaolan, Leng Xiangyou, Tao Dachang, Yang Yuan, Liu Yunqia
TOP