Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café‐au‐lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules. Inactivating variants in the NF1 gene have...

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Detalles Bibliográficos
Autores principales: Chen, Linlin, Xue, Feng, Xu, Jia, He, Jinwei, Fu, Wenzhen, Zhang, Zhenlin, Kang, Qinglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732320/
https://www.ncbi.nlm.nih.gov/pubmed/31347283
http://dx.doi.org/10.1002/mgg3.904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732320/
https://www.ncbi.nlm.nih.gov/pubmed/31347283
http://dx.doi.org/10.1002/mgg3.904

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