Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated...

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Detalles Bibliográficos
Autores principales: Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, Marques, João Pedro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137467/
https://www.ncbi.nlm.nih.gov/pubmed/37107588
http://dx.doi.org/10.3390/genes14040830

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