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Neurofibromatosis is a autosomally dominant disorder. It has been classified as Neurofi-bromatosis 1 and Neurofibromatosis 2. Neurofibromatosis 1 is caused due to the mutation in the NF1 gene which is located in the pericentromeric region of the chromosome 17. Expres-sion of the Neurofibromatosis 1 might range from subcutaneous nodules of neurofibromas to skeletal deformities. We are reporting a family with variable expression of Neurofibroma-tosis 1. The Index case is showing skeletal deformities. Father of the index case have multi-ple subcutaneous nodules of neurofibrobas all over the body, his elder brother is affected with plexifprm neurofibroma on the face and the younger sister is mildly affected and show-ing only few of the subcutaneous nodules on the limbs.
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Author(s): JE Waghmare CM Badole PD Kamble SK Kale AK Pal
Neurofibromatosis, Neurofibroma, Chromosome, Gene.