Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

INTRODUCTION: Large deletions of the NF1 gene and its flanking regions are frequently associated with a severe clinical manifestation. Different types of gross NF1 deletion have been identified that are distinguishable both by their size and the number of genes included within the deleted regions. T...

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Detalles Bibliográficos
Autores principales: Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David N, Mautner, Victor-Felix, Kehrer-Sawatzki, Hildegard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269400/
https://www.ncbi.nlm.nih.gov/pubmed/22151963
http://dx.doi.org/10.1186/1752-1947-5-577

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269400/
https://www.ncbi.nlm.nih.gov/pubmed/22151963
http://dx.doi.org/10.1186/1752-1947-5-577

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