Number of the records: 1  

Shwachmanov-Diamondov syndróm

  1. Subject h.Shwachmanov-Diamondov syndróm
    Subject h.Shwachman-Diamond Syndrome
    Entry termslipomatóza pankreasu, kongenitálna
    lipomatóza pankreasu, vrodená
    chondrodysplázia metafýzová, Swachmanov typ
    insuficiencia pankreasu a dysfunkcia kostnej drene
    Shwachmanov-Diamondov syndróm
    Shwachmanov syndróm
    Shwachman-Bodianov syndróm
    Shwachman-Bodian-Diamondov syndróm
    Shwachman-Diamond-Oski syndróm
    English X referencesPancreatic Insufficiency and Bone Marrow Dysfunction
    Shwachman Diamond Syndrome
    Shwachman Syndrome
    Shwachman-Bodian Syndrome
    Scope note in EnglishAn inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.
    Links (2) - ARTICLES
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all