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

@inproceedings{Alkindy2012GenotypephenotypeAI,
  title={Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?},
  author={Adila Alkindy and Nadia A. Chuzhanova and Usha Kini and David N. Cooper and Meena Upadhyaya},
  booktitle={Human Genomics},
  year={2012}
}
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 for targeted therapeutic intervention but has generally been unsuccessful, apart from small subsets of molecularly defined patients. The objective of this study was to evaluate the clinical… CONTINUE READING
Highly Cited
This paper has 175 citations. REVIEW CITATIONS
16 Citations
46 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 16 extracted citations

175 Citations

05010020142015201620172018
Citations per Year
Semantic Scholar estimates that this publication has 175 citations based on the available data.

See our FAQ for additional information.

References

Publications referenced by this paper.
Showing 1-10 of 46 references

Neurofibromatoses. In Neurofibromatoses: NF1 mutational spectrum, Basel:Monogr

  • L Messiaen, K Wimmer
  • Hum Genet. Edited by Kaufmann D. Basel,
  • 2008
Highly Influential
4 Excerpts

Similar Papers

Loading similar papers…