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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JCI Insight
Prif Awduron: Tabata, Mika M., Li, Shufeng, Knight, Pamela, Bakker, Annette, Sarin, Kavita Y.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2020
Pynciau:
Mynediad Ar-lein: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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