Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations inPRPF8
Investigative Ophthalmology & Visual Science2011Vol. 52(13), pp. 9304–9304
Citations Over Time
C. Maubaret, Veronika Vaclavik, Rajarshi Mukhopadhyay, Naushin Waseem, A Churchill, Graham E. Holder, Anthony T. Moore, Shomi S. Bhattacharya, Andrew R. Webster
Abstract
This is the first report of marked intrafamilial variability associated with mutations in the PRPF8 gene, including incomplete penetrance. PRPF8 mutations should be suspected in patients with adRP and variable expressivity.
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