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Therapeutic and diagnostic advances in Stickler syndrome

The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalm...

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Detalles Bibliográficos
Autores principales:	Snead, Martin, Martin, Howard, Bale, Peter, Shenker, Nick, Baguley, David, Alexander, Philip, McNinch, Annie, Poulson, Arabella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2020
Materias:	Rare Eye Diseases-Looking outside the box
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032448/ https://www.ncbi.nlm.nih.gov/pubmed/37180493 http://dx.doi.org/10.1177/2633004020978661

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