Associated Papers
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R et al.
European Journal of Human Genetics : Ejhg, 2017
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
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I et al.
Japanese Journal of Ophthalmology, 2012
Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
Neri A et al.
Molecular Vision, 2012
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay R et al.
Molecular Vision, 2010
Spatial and temporal expression of MFRP and its interaction with CTRP5.
Mandal MN et al.
Investigative Ophthalmology & Visual Science, 2006
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