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Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations

Stickler Syndrome is typically characterized by ophthalmic manifestations including vitreous degeneration and axial lengthening that predispose to retinal detachment. Systemic findings consist of micrognathia, cleft palate, sensorineural hearing loss, and joint abnormalities. COL2A1 mutations are th...

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Detalles Bibliográficos
Autores principales:	Jacobson, Adam, Besirli, Cagri G., Bohnsack, Brenda L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138194/ https://www.ncbi.nlm.nih.gov/pubmed/37107605 http://dx.doi.org/10.3390/genes14040847

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