Associated Papers
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort.
Xu Q et al.
Journal of Medical Genetics, 2025
Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2025
40459495 (PubMed )
Supplement: iovs-66-6-9_s002.pdf
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Tao J et al.
Clinical & Experimental Ophthalmology, 2025
Clinical features of patients with mutations in genes for nanophthalmos.
Li X et al.
The British Journal of Ophthalmology, 2024
Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients.
Tao J et al.
Gene, 2024
MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
Li Z et al.
Frontiers in Genetics, 2024
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ota J et al.
Ophthalmic Genetics, 2023
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
Ko J et al.
Yonsei Medical Journal, 2017
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