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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Chai, Peiwei, Luo, Yingxiu, Zhou, Chuandi, Wang, Yefei, Fan, Xianqun, Jia, Renbing
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6749707/
https://ncbi.nlm.nih.gov/pubmed/31533651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0877-9
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