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syndróm hyalínovej fibromatózy

  1. Subject h.syndróm hyalínovej fibromatózy
    Subject h.Hyaline Fibromatosis Syndrome
    Entry termsfibromatosis hyalinica multiplex juvenilis
    fibromatóza hyalínová juvenilná
    hyalinóza systémová
    hyalinóza systémová juvenilná
    hyalinóza systémová infantilná
    hyalinóza systémová, u detí
    hyalinóza systémová, v detskom veku
    hyalinóza juvenilná
    Murray syndróm
    Murrayov syndróm
    Puretic syndróm
    Pureticov syndróm
    English X referencesHyalinosis, Systemic
    Scope note in EnglishAutosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
    See also reference (FX) in Slovak choroba hyalínových membrán
    Urbachova-Wiethova lipoidproteinóza
    See also reference (FX) in English Hyaline Membrane Disease
    Lipoid Proteinosis of Urbach and Wiethe
    Links (2) - MeSH descriptor
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Number of the records: 1  

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