These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Author: Buteică E, Stoicescu I, Burada F, Stănoiu B.
    Journal: Rom J Morphol Embryol; 2007; 48(3):243-8. PubMed ID: 17914490.
    Abstract:
    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in the NF1 gene. The NF1 gene encoding neurofibromin protein, which is strongly expressed in the nervous system and with the role as a negative regular of the ras proteins signal. All six cases with neurofibromatosis type 1 were clinical and laboratory investigated. The frequently symptoms are "café au lait" spots and neurofibromas. In two cases, the disease is associated with essential hypertension and, in other two cases with kyphoscoliosis. The novo mutations in NF1 gene cause the disease in three cases, and in other three cases, the mutation is inherited (two cases on father side and one case on mother side).
    [Abstract] [Full Text] [Related] [New Search]