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

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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Bibliographic Details
Main Authors:	Megan Boothe, Robert Morris, Nathaniel Robin
Format:	Article
Language:	English
Published:	MDPI AG 2020-08-01
Series:	Journal of Personalized Medicine
Subjects:	Stickler Syndrome genetic testing <i>COL2A1</i> <i>COL11A1</i> next-generation sequencing
Online Access:	https://www.mdpi.com/2075-4426/10/3/105

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