Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype associations in NF1 is potentially useful...

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Autors principals: Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Primary Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3528442/
https://ncbi.nlm.nih.gov/pubmed/23244495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-7364-6-12
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