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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Detalles Bibliográficos
Autores principales: Lu, Yi-Ting, Zhang, Di, Liu, Xin-Chang, Zhang, Qiong-Yu, Dong, Xue-Qi, Fan, Peng, Xiao, Yan, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721095/
https://www.ncbi.nlm.nih.gov/pubmed/34988040
http://dx.doi.org/10.3389/fped.2021.785982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721095/
https://www.ncbi.nlm.nih.gov/pubmed/34988040
http://dx.doi.org/10.3389/fped.2021.785982

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