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Delineating the Molecular and Phenotypic Spectrum of the CNGA3-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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Detalles Bibliográficos
Autores principales:	Yousaf, Sairah, Tariq, Nabeela, Sajid, Zureesha, Sheikh, Shakeel A., Kausar, Tasleem, Waryah, Yar M., Shaikh, Rehan S., Waryah, Ali M., Sethna, Saumil, Riazuddin, Saima, Ahmed, Zubair M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031457/ https://www.ncbi.nlm.nih.gov/pubmed/35456423 http://dx.doi.org/10.3390/genes13040617

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