Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia

BACKGROUND: The clinical phenotyping of patients with achromatopsia harboring variants in PDE6C has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cGMP that proceeds with the hyperpolarization of photoreceptor cell mem...

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Detalles Bibliográficos
Autores principales: Bushehri, Ata, Zare-Abdollahi, Davood, Hashemian, Hesam, Safavizadeh, Ladan, Effati, Jalil, Khorram Khorshid, Hamid Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275818/
https://www.ncbi.nlm.nih.gov/pubmed/32306724
http://dx.doi.org/10.29252/ibj.24.4.257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275818/
https://www.ncbi.nlm.nih.gov/pubmed/32306724
http://dx.doi.org/10.29252/ibj.24.4.257

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