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Marfanov syndróm

  1. Subject h.Marfanov syndróm
    Subject h.Marfan Syndrome
    Entry termsporucha spojivového tkaniva podobná Marfanovmu syndrómu
    Marfanov syndróm, typ 1
    Marfanov syndróm typu I
    Marfanov syndróm, typ 2
    Marfanov syndróm typu II
    English X referencesMarfan Like Connective Tissue Disorder
    Marfan Syndrome Type 1
    Marfan Syndrome Type 2
    Marfan Syndrome, Type II
    Scope note in EnglishAn autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
    See also reference (FX) in Slovak Loeysov-Dietzov syndróm
    Weillov-Marchesaniho syndróm
    See also reference (FX) in English Loeys-Dietz Syndrome
    Weill-Marchesani Syndrome
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