Number of the records: 1  

Loeysov-Dietzov syndróm

  1. Record numberd055947
    Date06.06.2025
    TypeM - MESH
    Topical termLoeysov-Dietzov syndróm
    Other termEnglish (Pseudonym) Loeys-Dietz Aortic Aneurysm Syndrome
    Slovak (Pseudonym) Loeysov-Dietzov syndróm aneuryzmy aorty
    See also(Later heading) Marfanov syndróm
    (Skutočné meno) Ehlersov-Danlosov syndróm
    (Skutočné meno) Marfanov syndróm
    UDCC05.660.207.532C14.907.055.239.587C14.907.109.139.587C16.131.077.537C16.320.510
    NoteAn 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.
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Number of the records: 1  

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