https://cell-pathway.com/evalu....ating-the-effects-as
Results The client offered a 2 month history of gradual growth multiple cutaneous nodules. He previously cardiac rhabdomyoma, subependymal giant cellular astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules ended up being consistent with juvenile xanthogranuloma (JXG). After a couple of months of sirolimus therapy, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C T, p.R786*) mutation in both para
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