Article
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
International journal of molecular sciences - 23 Nov 2021
Mairot Kévin, Smirnov Vasily, Bocquet Béatrice, Labesse Gilles, Arndt Carl, Defoort-Dhellemmes Sabine, Zanlonghi Xavier, Hamroun Dalil, Denis Danièle, Picot Marie-Christine, David Thierry, Grunewald Olivier, Pégart Mako, Huguet Hélèna, Roux Anne-Françoise, Kalatzis Vasiliki, Dhaenens Claire-Marie, Meunier Isabelle
Abstract excerpt
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genotype correlation of 50 patients with regards to the recently identified CRB1 isoforms: a canonical long isoform A localized in Müller...
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