Associated Papers
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
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
Godinho G et al.
Ophthalmic Genetics, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B et al.
Scientific Reports, 2020
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Velez G et al.
Scientific Reports, 2017
29170418 (PubMed )
Supplement: 41598_2017_16275_MOESM1_ESM.pdf
Identification of MFRP Mutations in Chinese Families with High Hyperopia.
Xu Y et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Wasmann RA et al.
Acta Ophthalmologica, 2014
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
Nowilaty SR et al.
American Journal of Ophthalmology, 2013
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I et al.
Japanese Journal of Ophthalmology, 2012
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