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. 2019 Sep 30;7(12):e913. doi: 10.1002/mgg3.913

Figure 1.

Figure 1

Pedigree of reported patient. RB1 m: carrier of the pathogenic variant in RB1 (NM_000321.2: c.45_76dup, p.(Pro26Leufs*50)). RB1 wt: RB1 wild type; RB1 ?: RB1 sequencing not performed; TP53 wt: TP53 wild type. b., year of birth; ca., cancer; CHRPE, congenital hypertrophy of the retinal pigment epithelium; d., age at death; dx xx, cancer diagnosis at age xx years old; EF, eye fundoscopy; unilat., unilateral