Delineating the Molecular and Phenotypic Spectrum of the <i>CNGA3</i>-Related Cone Photoreceptor Disorder in Pakistani Families

Delineating the Molecular and Phenotypic Spectrum of the <i>CNGA3</i>-Related Cone Photoreceptor Disorder in Pakistani Families

Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestations of achromatopsia, a partial or total absence o...

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Bibliographic Details
Main Authors: Sairah Yousaf, Nabeela Tariq, Zureesha Sajid, Shakeel A. Sheikh, Tasleem Kausar, Yar M. Waryah, Rehan S. Shaikh, Ali M. Waryah, Saumil Sethna, Saima Riazuddin, Zubair M. Ahmed
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
achromatopsia
<i>CNGA3</i>
exome sequencing
missense variants
consanguineous families
Online Access:https://www.mdpi.com/2073-4425/13/4/617

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https://www.mdpi.com/2073-4425/13/4/617

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