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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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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | 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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