Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

• Hauptverfasser: Yi-Ting Lu (Verfasst von), Buweimairemu Rejiepu (Verfasst von), Di Zhang (Verfasst von), Dong-Cheng Cai (Verfasst von), Kun-Qi Yang (Verfasst von), Tao Tian (Verfasst von), Xian-Liang Zhou (Verfasst von), Peng Fan (Verfasst von)
• Format: Buch
• Veröffentlicht: Karger Publishers, 2023-08-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene. Approximately one-third of the reported pathogenic mutations in NF1 are splicing mutations, but most consequences are unclear. The objective of...