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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JCI Insight
Egile Nagusiak: Tabata, Mika M., Li, Shufeng, Knight, Pamela, Bakker, Annette, Sarin, Kavita Y.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2020
Gaiak:
Sarrera elektronikoa: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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