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Clinical characterization of children and adolescents with NF1 microdeletions

PURPOSE: An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and adolescents with NF1 microdeletions. METHODS: We retrospectively...

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Publicat a:Childs Nerv Syst
Autors principals: Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Salamon, Johannes, Well, Lennart, Farschtschi, Said, Rosenbaum, Thorsten, Mautner, Victor-Felix
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7575500/
https://ncbi.nlm.nih.gov/pubmed/32533297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00381-020-04717-0
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