A molecular basis for neurofibroma-associated skeletal manifestations in NF1.
Yun MaAndrea M GrossEva DombiAlexander PemovKwangmin ChoiKatherine ChaneySteven D RhodesSteven P AngusNoah SciakyD Wade ClappNancy RatnerBrigitte C WidemannJonathan J RiosFlorent ElefteriouPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Results indicate that NF-associated skeletal pathologies in NF1 are associated with dysregulated pyrophosphate homeostasis in adjacent NF tumors and suggest that treatment of NFs with MEK inhibitors may improve skeletal manifestations of the disease.