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Clinical Findings in Members of a Czech Family with Retinitis Pigmentosa Caused by the c.2426_2427delAG Mutation in RPGR

Publication at Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové |
2013

Abstract

To describe the phenotype of members of the first Czech retinitis pigmentosa family with an identified molecular genetic cause (c.2426-2427 delAG in RPGR), followed for more than 13 years.