Associated Papers
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
Neuhann L et al.
International Journal of Molecular Sciences, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay R et al.
Molecular Vision, 2010
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