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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.