HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. [PDF]
Dis Model MechLuo S +8 more
europepmc +1 more source
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. [PDF]
Mol Genet Genomic MedGerman RJ +8 more
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Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy. [PDF]
Invest Ophthalmol Vis SciDaich Varela M +3 more
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A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature. [PDF]
Mol SyndromolHasturk BA +8 more
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RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. [PDF]
Am J OphthalmolGeorgiou M +14 more
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Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]
Int J Mol SciMaggi J +7 more
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Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences. [PDF]
Int J Mol SciMoya R +7 more
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Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials. [PDF]
Invest Ophthalmol Vis SciJin Y +7 more
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