Associated Papers
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
Li Z et al.
Frontiers in Genetics, 2024
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhADaXaOther
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
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