Genetic testing in four Indian families with suspected Stickler syndrome

Purpose: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to...

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發表在:	Indian Journal of Ophthalmology
Main Authors:	Suganya Kandeeban, Kaustubh Kandale, Porkodi Periyasamy, Muna Bhende, Pramod Bhende, Mathavan Sinnakaruppan, Sripriya Sarangapani
格式:	Article
語言:	英语
出版:	Wolters Kluwer Medknow Publications 2022-01-01
主題:	col11a1 col2a1 next-generation sequencing retinal detachment stickler syndrome
在線閱讀:	http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2578;epage=2583;aulast=Kandeeban