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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Detalles Bibliográficos
Autores principales: Kandeeban, Suganya, Kandale, Kaustubh, Periyasamy, Porkodi, Bhende, Muna, Bhende, Pramod, Mathavan, Sinnakaruppan, Sarangapani, Sripriya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426114/
https://www.ncbi.nlm.nih.gov/pubmed/35791160
http://dx.doi.org/10.4103/ijo.IJO_1833_21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426114/
https://www.ncbi.nlm.nih.gov/pubmed/35791160
http://dx.doi.org/10.4103/ijo.IJO_1833_21

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