Associated Papers
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Elbagoury NM et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Kirkby J et al.
Genes, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
Gliem M et al.
Retina (philadelphia, Pa.), 2014
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
Gehrig A et al.
Clinical Genetics, 1999
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