PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

PURPOSE: Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone–rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone–rod dystrophy and the first longitudinal data of a pediatric pat...

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Detalles Bibliográficos
Autores principales: Daich Varela, Malena, Ullah, Ehsan, Yousaf, Sairah, Brooks, Brian P., Hufnagel, Robert B., Huryn, Laryssa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Clinical and Epidemiologic Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545085/
https://www.ncbi.nlm.nih.gov/pubmed/33001157
http://dx.doi.org/10.1167/iovs.61.12.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545085/
https://www.ncbi.nlm.nih.gov/pubmed/33001157
http://dx.doi.org/10.1167/iovs.61.12.1

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