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neurofibromatóza 1

  1. Hesloneurofibromatóza 1
    Heslo anglickyNeurofibromatosis 1
    Odkazyvon Recklinghausenova choroba
    neurofibromatóza periférna
    Recklinghausenova choroba nervov
    Angl. X odkazyPeripheral Neurofibromatosis
    Recklinghausen Disease of Nerve
    von Recklinghausen Disease
    Vysvetľujúca pozn. v angl.An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
    Pozri aj (FX) v slov. gény neurofibromatózy 1
    LEOPARD-syndróm
    neurofibromín 1
    Noonanovej syndróm
    Pozri aj (FX) v angl. Genes, Neurofibromatosis 1
    LEOPARD Syndrome
    Neurofibromin 1
    Noonan Syndrome
    Odkazy (46) - ČLÁNKY
    (4) - heslo MeSH
    (6) - CiBaMed
    (21) - KNIHY
    predmetové heslo

    predmetové heslo

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