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. 2014 Nov 10;9(11):e111754. doi: 10.1371/journal.pone.0111754

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© 2014 Linder et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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II:2, index patient and heterozygous carrier of the PRPF4 variant p.R192H. Arrows, individuals who were available for genetic and clinical characterization. Circles, female individuals; Squares, male individuals. Filled symbols indicate affected persons. White symbols, unaffected persons by detailed ophthalmological investigation (III:2, III:4) or medical history. III:4, healthy carrier of the PRPF4 variant. Crossed symbols, deceased persons. Age at the time of examination is given below the pedigree symbols.