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

Muns, Sofia M; Montalvo, Lorena A; Vargas Del Valle, Jose G; Martinez, Meliza; Oliver, Armando L; Izquierdo, Natalio J

Muns, Sofia M; Montalvo, Lorena A; Vargas Del Valle, Jose G; Martinez, Meliza; Oliver, Armando L; Izquierdo, Natalio J.

Afiliación

Muns SM; University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.
Montalvo LA; Department of Ophthalmology, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.
Vargas Del Valle JG; University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.
Martinez M; Endocrinology, Diabetes and Metabolism Section, Department of Internal Medicine, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.
Oliver AL; Department of Ophthalmology, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.
Izquierdo NJ; Department of Surgery, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA.

Am J Ophthalmol Case Rep ; 20: 100914, 2020 Dec.

Article en En | MEDLINE | ID: mdl-33015405

Palabras clave

Bardet biedl syndrome; Cone-rod dystrophy; Ophthalmic genetics; Retinitis pigmentosa

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Am J Ophthalmol Case Rep Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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