Endocrine Implications of Neurofibromatosis 1 in Childhood

@article{Bizzarri2015EndocrineIO,
  title={Endocrine Implications of Neurofibromatosis 1 in Childhood},
  author={Carla Bizzarri and Giorgia Bottaro},
  journal={Hormone Research in Paediatrics},
  year={2015},
  volume={83},
  pages={232 - 241}
}
In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the ‘endoneurium' of peripheral nerves, and called them ‘neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of… CONTINUE READING

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