Ars, E., Serra, E., Garcia, J., Kruyer, H., Gaona, A., Lazaro, C., et al. (2000) Mutations Affecting mRNA Splicing Are the Most Common Molecular Defects in Patients with Neurofibromatosis Type 1. Human Molecular Genetics, 9, 237-247.
https://doi.org/10.1093/hmg/9.2.237

has been cited by the following article:

• TITLE: Neurofibromatosis Type 1 or Von Recklinghausen Disease: About Three Cases to the National Hospital of Niamey and Literature Review

  AUTHORS: M. Daou, M. Sidibé, A. Andia, M. J. Y. Araoye, M. Konaté, Z. Mamadou, Y. Abba Kaka, D. I. Bako, S. Beydou, S. Brah, L. Salissou, E. Adehossi, S. Sanoussi

  KEYWORDS: Von Recklinghausen Disease, NIH Criteria, Niger

  JOURNAL NAME: Open Journal of Internal Medicine, Vol.11 No.3, September 18, 2021

  ABSTRACT: We report three cases of neurofibromatosis type 1 disease with literature review, collected in the department of neurology and internal medicine from National Hospital of Niamey (HNN). Two of them were men and the first signs were noted by the mother at the birth in 2 cases. Only one case of consanguinity was observed. Clinically, light brown spots on the skin, neurofibromas, Lisch nodules were constantly observed. Histopathological’s exam confirmed neurofibromas. Moreover, cutaneous and ophthalmological manifestations lead to the diagnostic. Two cases of orthopedic complications were observed: one scoliosis and one Congenital dysplasia of the long bones. There was no specific treatment. Neurofibromatosis type 1 or von Recklinghausen’s disease is the most frequent phacomatosis and its diagnosis is usually composed of a set of clinical criteria of the National Institute Health (Bethesda, 1988).