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Article

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Journal of medical genetics - 20 Oct 2025

Hussain Hafiz Muhammad Jafar, Meng Wang, Li Yumei, Firasat Sabika, Pennesi Mark E, Gorin Michael B, Guan Bin, Clark Rebecca Lynn, Fale-Olsen Emma, Al Rawi Ranya, Agather Aime, Huryn Laryssa A, Yang Paul, Matynia Anna, Chen Rui

Abstract excerpt

BACKGROUND: Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs. METHODS: All patients underwent comprehensive ophthalmological evaluation,...

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PMID: 40744518
DOI: 10.1136/jmg-2025-110681
PMCID: PMC12358183

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