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Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
Eye, 11/09/09
Wu DM et al. – This insertion mutation in the RPGRexon ORF15 is associated with a RP phenotype that severely affects males early and females by 30 years of age, and is highly penetrant in female members. Families with dominant–acting RPGRmutations may be mistaken to have an autosomal mode of inheritance resulting in an incorrect prediction of recurrence risk and prognosis. Broader recognition of X–linked RP forms with dominant inheritance is necessary to facilitate appropriate counselling of these patients.
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