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

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Bibliographic Details
Title: Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.
Authors: Hussain HMJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Meng W; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Li Y; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Firasat S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Pennesi ME; Retina Foundation of the Southwest, Southwest, Dallas, Texas, USA.; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Gorin MB; Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California, USA.; Department of Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Clark RL; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Fale-Olsen E; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Al Rawi R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Agather A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Yang P; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Matynia A; College of Optometry, University of Houston, Houston, Texas, USA., Chen R; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA ruic20@hs.uci.edu.
Source: Journal of medical genetics [J Med Genet] 2025 Oct 20; Vol. 62 (11), pp. 693-699. Date of Electronic Publication: 2025 Oct 20.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2025-110681