Associated Papers
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy.
Buckley TMW et al.
American Journal of Ophthalmology Case Reports, 2022
UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION.
Gupta MP et al.
Retinal Cases & Brief Reports, 2021
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Brandl C et al.
Genes, 2017
Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G et al.
American Journal of Human Genetics, 2013
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