Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.
Murro V et al.
Bmc Ophthalmology, 2017
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
Kim DY et al.
Retina (philadelphia, Pa.), 2006
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
Sato M et al.
Ophthalmic Research, 0
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Kim DY et al.
Seminars in Ophthalmology, 0
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