Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
Article in Investigative Ophthalmology & Visual Science (March 2023)
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A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy
Article in Ophthalmic Genetics (March 2023)
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
Article in Genes (January 2023)