CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific...
CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
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Author / Creator
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 and Meunier, Isabelle
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Pathogenic variants in
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
Alternative Titles
Full title
CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8657784
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8657784
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067,1661-6596
DOI
10.3390/ijms222312642
