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Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving v...

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Detalles Bibliográficos
Autores principales: Boothe, Megan, Morris, Robert, Robin, Nathaniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564399/
https://www.ncbi.nlm.nih.gov/pubmed/32867104
http://dx.doi.org/10.3390/jpm10030105