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

• Main Authors: Yi-Ting Lu (Author), Buweimairemu Rejiepu (Author), Di Zhang (Author), Dong-Cheng Cai (Author), Kun-Qi Yang (Author), Tao Tian (Author), Xian-Liang Zhou (Author), Peng Fan (Author)
• Format: Knjiga
• Izdano: Karger Publishers, 2023-08-01T00:00:00Z.
• Teme: article
• Online dostop: 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...