Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

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Bibliographic Details
Title: Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Authors: Elbagoury NM; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Essawi ML; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Fathy HM; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Eid OM; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Nabih M; Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt., Mohamed AM; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Tawfik CA; Department of Ophthalmology, Faculty of Medicine, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al-Waili, Cairo, 11566, Egypt. Caroline_Tawfik@med.asu.edu.eg.
Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2026 Apr; Vol. 152 (2), pp. 145-158. Date of Electronic Publication: 2025 Oct 22.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1573-2622
DOI:10.1007/s10633-025-10053-y