Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early-onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested a...

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Detalles Bibliográficos
Autores principales: Huang, Xinhua, Lin, Ying, Chen, Chuan, Zhu, Yi, Gao, Hongbin, Li, Tao, Liu, Bingqian, Lyu, Cancan, Huang, Ying, Wu, Qingxiu, Li, Haichun, Jin, Chenjin, Liang, Xiaoling, Lu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108863/
https://www.ncbi.nlm.nih.gov/pubmed/30015854
http://dx.doi.org/10.3892/ijmm.2018.3752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108863/
https://www.ncbi.nlm.nih.gov/pubmed/30015854
http://dx.doi.org/10.3892/ijmm.2018.3752

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