Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthr...

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Bibliographic Details
Main Authors: Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL11A1
early myopia
hearing loss
novel mutation
stickler syndrome
Online Access:https://doi.org/10.1002/mgg3.1353

Internet

https://doi.org/10.1002/mgg3.1353

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