Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

Background: Neurofibromatosis 1 (NF1) is one of the most common dominantly inherited genetic disorders worldwide, with an age-dependent phenotypic expression. Exploring the mutational spectrum and clinical presentation of NF1 patients at different ages from a diverse population will aid the understa...

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Detalles Bibliográficos
Autores principales: Yao, Ruen, Yu, Tingting, Xu, Yufei, Yu, Li, Wang, Jiwen, Wang, Xiumin, Wang, Jian, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896037/
https://www.ncbi.nlm.nih.gov/pubmed/31717729
http://dx.doi.org/10.3390/genes10110847

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896037/
https://www.ncbi.nlm.nih.gov/pubmed/31717729
http://dx.doi.org/10.3390/genes10110847

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