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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American Society for Clinical investigation
2020-08-01
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| Series: | JCI Insight |
| Subjects: | |
| Online Access: | https://doi.org/10.1172/jci.insight.136262 |