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DiGeorgeov syndróm

  1. Subject h.DiGeorgeov syndróm
    Subject h.DiGeorge Syndrome
    Entry termsOpitzov autozomálne dominantný G-Bbb syndróm
    Catch22
    22q11.2DS
    syndróm konotrunkálnej tvárovej anomálie (CTAF)
    DiGeorgova anomália
    syndróm velokardiofaciálny
    DiGeorgova sekvencia
    syndróm familiárneho 3. a 4. faryngálneho vačku
    hypoplázia týmusu a prištítnych teliesok
    syndróm faryngálneho vačku
    Sedláčkovej syndróm
    Shprintzenov VCF syndróm
    syndróm aplázie týmusu
    VCF syndróm
    syndróm štvrtého žiabrového oblúka
    Di Georgeov syndróm
    DiGeorgov syndróm
    Di Georgov syndróm
    syndróm delécie 22q11.2
    English X referencesVelocardiofacial Syndrome
    Scope note in EnglishCongenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
    See also reference (FX) in Slovak klaudín-5
    See also reference (FX) in English Claudin-5
    Links (22) - ARTICLES
    (1) - MeSH descriptor
    (3) - CiBaMed
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Number of the records: 1  

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