Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum

PURPOSE: To evaluate the phenotypic spectrum of autosomal recessive RP1-associated retinal dystrophies and assess genotypic associations. METHODS: A retrospective multicenter study was performed of patients with biallelic RP1-associated retinal dystrophies. Data including presenting symptoms and age...

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Bibliografische gegevens
Gepubliceerd in:Mol Vis
Hoofdauteurs: Huckfeldt, Rachel M., Grigorian, Florin, Place, Emily, Comander, Jason I., Vavvas, Demetrios, Young, Lucy H., Yang, Paul, Shurygina, Maria, Pierce, Eric A., Pennesi, Mark E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Molecular Vision 2020
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7300197/
https://ncbi.nlm.nih.gov/pubmed/32565670
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