Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

@article{Baralle2003DifferentMI,
  title={Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).},
  author={Diana Baralle and Chris J Mattocks and Kamini Kalidas and Frances V. Elmslie and Joanne Whittaker and Melissa Lees and Nicola Ragge and Michael A. Patton and Robin Winter and Charles ffrench-Constant},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={119A 1},
  pages={1-8}
}
The association of the Noonan phenotype with neurofibromatosis type 1 (NF1) was first noted by Allanson et al. [Am J Med Genet 1985;21:457-462.] and 30 further cases have subsequently been reported. It has been suggested that this phenotype is more common than previously appreciated, as Colley et al. [Clin Genet 1996;49:59-64.] examined 94 sequentially identified patients with NF1 from their genetic register and found Noonan features in 12. A 3-bp deletion of exon 17 of the NF1 neurofibromin… CONTINUE READING

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