Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a varia...

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Detalles Bibliográficos
Autores principales: Madeira, Carolina, Godinho, Gonçalo, Grangeia, Ana, Falcão, Manuel, Silva, Renato, Carneiro, Ângela, Brandão, Elisete, Magalhães, Augusto, Falcão-Reis, Fernando, Estrela-Silva, Sérgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460892/
https://www.ncbi.nlm.nih.gov/pubmed/34720973
http://dx.doi.org/10.1159/000512284

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460892/
https://www.ncbi.nlm.nih.gov/pubmed/34720973
http://dx.doi.org/10.1159/000512284

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