Do NF1 gene deletions result in a characteristic phenotype?

  title={Do NF1 gene deletions result in a characteristic phenotype?},
  author={James H. Tonsgard and Krishna K Yelavarthi and Shana Cushner and M. Priscilla Short and Valerie Lindgren},
  journal={American journal of medical genetics},
  volume={73 1},
Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked variability of expression. Analysis of the NF1 gene (NF1) has detected a variety of mutations without any clear correlation with phenotype. However, deletions which remove all of NF1 have been reported in a small number of patients who have minor facial abnormalities, mental retardation, learning disabilities, and early or excessive burden of cutaneous or plexiform neurofibromas. The purpose of this study was to determine… CONTINUE READING