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Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry
Neurofibromatosis type 1 (NF1) is a rare genetic disorder, characterized by the development of benign and malignant nerve tumors. Although all individuals with NF1 harbor genetic alterations in the same gene, the clinical manifestations of NF1 are extremely heterogeneous even among individuals who c...
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| Publicat a: | JCI Insight |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7455126/ https://ncbi.nlm.nih.gov/pubmed/32814709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.136262 |
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