Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia

Background: The clinical phenotyping of patients with achromatopsia harboring variants in phosphordiesterase 6C (PDE6C) has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cyclic guanosine monophosphate that proceeds wi...

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Bibliographic Details
Main Authors: Ata Bushehri, Davood Zare-Abdollahi, Hesam Hashemian, Ladan Safavizadeh, Jalil Effati, Hamid Reza Khorram Khorshid
Format: Article
Language:English
Published: Pasteur Institute of Iran 2020-07-01
Series:Iranian Biomedical Journal
Subjects:
achromatopsia
pde6c
whole exome sequencing
Online Access:http://ibj.pasteur.ac.ir/article-1-2998-en.html

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http://ibj.pasteur.ac.ir/article-1-2998-en.html

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