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Noonanovej syndróm

  1. Subject h.Noonanovej syndróm
    Subject h.Noonan Syndrome
    Entry termsTurnerov syndróm mužský
    Turnerov syndróm u mužov
    English X referencesMale Turner Syndrome
    Turner Syndrome, Male
    Scope note in EnglishA 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.
    See also reference (FX) in Slovak Costellov syndróm
    LEOPARD-syndróm
    neurofibromatóza 1
    Turnerov syndróm
    See also reference (FX) in English Costello Syndrome
    LEOPARD Syndrome
    Neurofibromatosis 1
    Turner Syndrome
    Links (18) - ARTICLES
    (4) - MeSH descriptor
    (1) - CiBaMed
    (2) - BOOKS
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Number of the records: 1  

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