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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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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3269400/ https://ncbi.nlm.nih.gov/pubmed/22151963 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-5-577 |
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