Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

• Main Authors: Yi-Ting Lu (Author), Di Zhang (Author), Xin-Chang Liu (Author), Qiong-Yu Zhang (Author), Xue-Qi Dong (Author), Peng Fan (Author), Yan Xiao (Author), Xian-Liang Zhou (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal freckling. The aim of this study was to inve...