Congenital Contractural Arachnodactyly
Last Posted: Feb 28, 2023
- A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.
Li Jiaxin, et al. Journal of genetics and genomics = Yi chuan xue bao 2020 0 (5) 281-284
- Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.
Maya Idit, et al. European journal of medical genetics 2020 0 (10) 104008
- [Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].
Wang Jieqiong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (5) 497-500
- [A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly].
Tan Xiaolan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 0 (5) 522-525
- Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi Arash et al. Clinical genetics 2019 Sep
- A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
- Congenital contractural arachnodactyly
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