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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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Detalhes bibliográficos
Publicado no:J Pers Med
Main Authors: Boothe, Megan, Morris, Robert, Robin, Nathaniel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7564399/
https://ncbi.nlm.nih.gov/pubmed/32867104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm10030105
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