Figure Legends
Figure 1. Direct sequencing of CBL and NF1 for this case and his parents. (A): Sequencing result of the DNA from this patient’s buccal smear cells, revealing a heterozygous mutation of CBL(c.1111T>C; p.Tyr371His). (B) and (C): Sequencing results of CBL from the DNA from paternal and maternal peripheral blood mononuclear cells (PBMC), respectively; both wild type. (D) and (E): Sequencing results of NF1 from the DNA from paternal and maternal PBMC, respectively; identifying a heterozygous NF1 variable site (c.3352A>G; p.Ser1118Gly) in maternal PBMC.