Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

BACKGROUND: Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported. METHODS: The medical charts of 26 Chinese patients with OPPN...

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Detalles Bibliográficos
Autores principales: Chai, Peiwei, Luo, Yingxiu, Zhou, Chuandi, Wang, Yefei, Fan, Xianqun, Jia, Renbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749707/
https://www.ncbi.nlm.nih.gov/pubmed/31533651
http://dx.doi.org/10.1186/s12881-019-0877-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749707/
https://www.ncbi.nlm.nih.gov/pubmed/31533651
http://dx.doi.org/10.1186/s12881-019-0877-9

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