Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the identification of over 90 genes associated with RP, conventional genetic testing fails to detect a molecular diagnosis in about one third of patients with RP.

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa / Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K; Sergouniotis, Panagiotis I; Le Meur, Guylène; Dhaenens, Claire-Marie; Naacke, Hélène; Avila-Fernández, Almudena; Hoyng, Carel B; Klevering, Jeroen; Bocquet, Béatrice; Roubertie, Agathe; Sénéchal, Audrey; Banfi, Sandro; Muller, Agnès; Hamel, Christian L; Black, Graeme C; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gaël. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 58:8(2021), pp. 570-578. [10.1136/jmedgenet-2020-107150]

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Conte, Ivan;
2021

Abstract

Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the identification of over 90 genes associated with RP, conventional genetic testing fails to detect a molecular diagnosis in about one third of patients with RP.
2021
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa / Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K; Sergouniotis, Panagiotis I; Le Meur, Guylène; Dhaenens, Claire-Marie; Naacke, Hélène; Avila-Fernández, Almudena; Hoyng, Carel B; Klevering, Jeroen; Bocquet, Béatrice; Roubertie, Agathe; Sénéchal, Audrey; Banfi, Sandro; Muller, Agnès; Hamel, Christian L; Black, Graeme C; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gaël. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 58:8(2021), pp. 570-578. [10.1136/jmedgenet-2020-107150]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/816451
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