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

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

<i>CNGB1</i> 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 wi...

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Bibliographic Details
Main Authors: Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
inherited retinal disease
rod-cone degeneration
retinitis pigmentosa
olfactory dysfunction
<i>CNGB1</i>
Online Access:https://www.mdpi.com/2073-4425/14/4/830

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