Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficul...

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Detalles Bibliográficos
Autores principales: Zhang, Jia, Tong, Hanxing, Fu, Xi’an, Zhang, Yong, Liu, Jiangbo, Cheng, Ruhong, Liang, Jianying, Peng, Jie, Sun, Zhonghui, Liu, Hong, Zhang, Furen, Lu, Weiqi, Li, Ming, Yao, Zhirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460887/
https://www.ncbi.nlm.nih.gov/pubmed/26056819
http://dx.doi.org/10.1038/srep11291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460887/
https://www.ncbi.nlm.nih.gov/pubmed/26056819
http://dx.doi.org/10.1038/srep11291

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