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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:JCI Insight
Hauptverfasser: Tabata, Mika M., Li, Shufeng, Knight, Pamela, Bakker, Annette, Sarin, Kavita Y.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2020
Schlagworte:
Online Zugang: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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