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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...
Autores principales: | Lu, Yi-Ting, Zhang, Di, Liu, Xin-Chang, Zhang, Qiong-Yu, Dong, Xue-Qi, Fan, Peng, Xiao, Yan, Zhou, Xian-Liang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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