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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification

Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel syndrome featuring progressive epithelial and anterior stromal opacification in a brother and sister and their mildly affected father, with all t...

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Detalles Bibliográficos
Autores principales:	Serpen, Jasmine Y., Presley, William, Beil, Adelyn, Armenti, Stephen T., Johnson, Kayla, Mian, Shahzad I., Innis, Jeffrey W., Prasov, Lev
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218699/ https://www.ncbi.nlm.nih.gov/pubmed/37239394 http://dx.doi.org/10.3390/genes14051034

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