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Loeysov-Dietzov syndróm

  1. Subject h.Loeysov-Dietzov syndróm
    Subject h.Loeys-Dietz Syndrome
    Entry termsLoeysov-Dietzov syndróm aneuryzmy aorty
    English X referencesLoeys-Dietz Aortic Aneurysm Syndrome
    Scope note in EnglishAn autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
    See also reference (FX) in Slovak Ehlersov-Danlosov syndróm
    Marfanov syndróm
    See also reference (FX) in English Ehlers-Danlos Syndrome
    Marfan Syndrome
    Links (6) - ARTICLES
    (2) - MeSH descriptor
    (1) - CiBaMed
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Number of the records: 1  

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