Segmental neurofibromatosis in childhood.

@article{Listernick2003SegmentalNI,
  title={Segmental neurofibromatosis in childhood.},
  author={Robert L Listernick and Anthony J. Mancini and Joel Charrow},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={121A 2},
  pages={132-5}
}
Segmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF-1) limited to one area of the body. It results from a post-conceptional mutation in the NF-1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF-1 demonstrates that it is commonly seen in a pediatric NF-1 referral center. The mean age at diagnosis was 7.8 years (range: 2-25 years). Twenty-nine patients had… CONTINUE READING

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