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

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 osteoarthritis. CO...

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Detalles Bibliográficos
Autores principales: Brizola, Evelise, Gnoli, Maria, Tremosini, Morena, Nucci, Paolo, Bargiacchi, Sara, La Barbera, Andrea, Giglio, Sabrina, Sangiorgi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507508/
https://www.ncbi.nlm.nih.gov/pubmed/32558342
http://dx.doi.org/10.1002/mgg3.1353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507508/
https://www.ncbi.nlm.nih.gov/pubmed/32558342
http://dx.doi.org/10.1002/mgg3.1353

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