Number of the records: 1  

Andersenov syndróm

  1. Record numberd050030
    Date06.06.2025
    TypeM - MESH
    Topical termAndersenov syndróm
    See also(Later heading) Pierre Robinov syndróm
    (Skutočné meno) Pierre Robinov syndróm
    UDCC14.280.067.565.070C14.280.123.625.070C16.131.240.400.715.070C23.550.073.547.070
    NoteA 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.
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Number of the records: 1  

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