The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while w...

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Detalles Bibliográficos
Autores principales: Yang, Fan, Xu, Song, Liu, Renwang, Shi, Tao, Li, Xiongfei, Li, Xuebing, Chen, Gang, Liu, Hongyu, Zhou, Qinghua, Chen, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826295/
https://www.ncbi.nlm.nih.gov/pubmed/29503567
http://dx.doi.org/10.2147/OTT.S156998

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826295/
https://www.ncbi.nlm.nih.gov/pubmed/29503567
http://dx.doi.org/10.2147/OTT.S156998

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