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Andersenov syndróm

  1. Subject h.Andersenov syndróm
    Subject h.Andersen Syndrome
    Scope note in EnglishA form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
    See also reference (FX) in Slovak Pierre Robinov syndróm
    See also reference (FX) in English Pierre Robin Syndrome
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Number of the records: 1  

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