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Noonanovej syndróm

  1. HesloNoonanovej syndróm
    Heslo anglickyNoonan Syndrome
    OdkazyTurnerov syndróm mužský
    Turnerov syndróm u mužov
    Angl. X odkazyMale Turner Syndrome
    Turner Syndrome, Male
    Vysvetľujúca pozn. v angl.A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
    Pozri aj (FX) v slov. Costellov syndróm
    LEOPARD-syndróm
    neurofibromatóza 1
    Turnerov syndróm
    Pozri aj (FX) v angl. Costello Syndrome
    LEOPARD Syndrome
    Neurofibromatosis 1
    Turner Syndrome
    Odkazy (18) - ČLÁNKY
    (4) - heslo MeSH
    (1) - CiBaMed
    (2) - KNIHY
    predmetové heslo

    predmetové heslo

Počet záznamov: 1  

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