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Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

PURPOSE: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. OBSERVATIONS: Sequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several a...

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Detalles Bibliográficos
Autores principales:	Muns, Sofia M., Montalvo, Lorena A., Vargas Del Valle, Jose G., Martinez, Meliza, Oliver, Armando L., Izquierdo, Natalio J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522087/ https://www.ncbi.nlm.nih.gov/pubmed/33015405 http://dx.doi.org/10.1016/j.ajoc.2020.100914

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