A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by NF1 gene mutation. Its clinical manifestations include multiple cafe´‐au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning disabilities, and an increased risk of malignancy. METHO...

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Detalles Bibliográficos
Autores principales: Zhang, Tingting, Jia, Caiwei, Dong, Zhiya, Li, Chuanyin, Lu, Wenli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172195/
https://www.ncbi.nlm.nih.gov/pubmed/33764694
http://dx.doi.org/10.1002/mgg3.1643

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172195/
https://www.ncbi.nlm.nih.gov/pubmed/33764694
http://dx.doi.org/10.1002/mgg3.1643

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