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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...
Guardat en:
| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732320/ https://ncbi.nlm.nih.gov/pubmed/31347283 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.904 |
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