A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak-Reference-Cited by-同舟云学术

A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak

Published:2017-08-10 Issue:1 Volume:4 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Ohto Tatsuyuki^ORCID,Enokizono Takashi,Tanaka Ryuta,Tanaka Mai,Suzuki Hisato,Sakai Aiko,Imagawa Kazuo,Fukushima Hiroko,Fukushima Takashi,Sumazaki Ryo,Uehara Tomoko,Takenouchi Toshiki,Kosaki Kenjiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201733.pdf

Reference13 articles.

1. Forsythe E, Beales PL . Bardet-Biedl syndrome. Eur J Hum Genet 2013; 21: 8–13.

2. Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S . Genetics of Human Bardet-Biedl Syndrome, an Updates. Clin Genet 2016; 90: 3–15.

3. Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet 2016; 25: 2283–2294.

4. Novas R, Cardenas-Rodriguez M, Irigoin F, Badano JL . Bardet-Biedl syndrome: Is it only cilia dysfunction? FEBS Lett 2015; 589: 3479–3491.

5. Cardenas-Rodriguez M, Badano JL . Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009; 151C: 263–280.

Cited by 4 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. Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis;Egyptian Pediatric Association Gazette;2023-10-30

2. Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10);ACS Omega;2022-10-12

3. Bardet–Biedl syndrome and related disorders in Japan;Journal of Human Genetics;2020-05-25

4. Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome;International Ophthalmology;2020-05-24