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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Detalles Bibliográficos
Autores principales: Tabata, Mika M., Li, Shufeng, Knight, Pamela, Bakker, Annette, Sarin, Kavita Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455126/
https://www.ncbi.nlm.nih.gov/pubmed/32814709
http://dx.doi.org/10.1172/jci.insight.136262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455126/
https://www.ncbi.nlm.nih.gov/pubmed/32814709
http://dx.doi.org/10.1172/jci.insight.136262

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