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.