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

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

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 inves...

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Bibliographic Details
Main Authors: Yi-Ting Lu, Di Zhang, Xin-Chang Liu, Qiong-Yu Zhang, Xue-Qi Dong, Peng Fan, Yan Xiao, Xian-Liang Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Pediatrics
Subjects:
neurofibromatosis type 1
NF1
early-onset hypertension
frame-shift mutation
genetic analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.785982/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.785982/full

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