PAX6 -associated aniridia and RPGR -related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis

BMJ Case Reports · Published 2026-07-01 · DOI 10.1136/bcr-2026-272790

Authors (4)

Nilton Viegas Mestre, Mohammad Maraqah, Ana Luísa Carvalho, João Pedro Marques

Abstract

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Publication details

Year

2026

Citation

Mestre, N., Maraqah, M., Carvalho, A., et al. (2026). PAX6 -associated aniridia and RPGR -related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis. BMJ Case Reports. https://doi.org/10.1136/bcr-2026-272790

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