Cellular and molecular mechanisms of pathogenesis underlying inherited retinal dystrophies
A Manley, BI Meshkat, MM Jablonski, TJ Hollingsworth - Biomolecules, 2023 - mdpi.com
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
[HTML][HTML] Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant
YK Durlu, S Canbek - American Journal of Ophthalmology Case Reports, 2024 - Elsevier
Purpose To report the posterior segment findings in a case with a biallelic CDHR1 frameshift
pathogenic variant at chromosome 10 c. 616del exon7 p.(His206Thrfs∗ 61). Observations A …
pathogenic variant at chromosome 10 c. 616del exon7 p.(His206Thrfs∗ 61). Observations A …
Association of the c. 75C> A Variant in CLCC1 with Autosomal Recessive Retinitis Pigmentosa in Pakistan
YM Waryah, FF Khidri, A Ansari… - Journal of Liaquat …, 2024 - ojs.lumhs.edu.pk
Objective: To identify the disease-causing allele of retinitis pigmentosa, a heterogeneous
genetic disorder in a single affected family. Methodology: A cross-sectional descriptive study …
genetic disorder in a single affected family. Methodology: A cross-sectional descriptive study …