Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
Author:
Funder
Conselho Nacional de Desenvolvimento Científico e Tecnológico
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10633-023-09959-2.pdf
Reference26 articles.
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3. Vincent A, Robson AG, Neveu MM et al (2013) A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology 120(7):1454–1464. https://doi.org/10.1016/j.ophtha.2012.12.008
4. Inoue Y, Yamamoto S, Inoue T, Fujikado T, Kusaka S, Ohguro N et al (2002) Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. Am J Ophthalmol 134(4):622–624. https://doi.org/10.1016/S0002-9394(02)01592-1
5. George ND, Yates JR, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 76:697–702. https://doi.org/10.1136/bjo.79.7.697
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