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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Detalles Bibliográficos
Autores principales: Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Salamon, Johannes, Well, Lennart, Farschtschi, Said, Rosenbaum, Thorsten, Mautner, Victor-Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Annual Issue Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575500/
https://www.ncbi.nlm.nih.gov/pubmed/32533297
http://dx.doi.org/10.1007/s00381-020-04717-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575500/
https://www.ncbi.nlm.nih.gov/pubmed/32533297
http://dx.doi.org/10.1007/s00381-020-04717-0

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