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Andersenov syndróm

Č. záznamu	d050030
Dátum	06.06.2025
Typ	M
Tematický termín	Andersenov syndróm
Pozri tiež	(Novšie záhlavie) Pierre Robinov syndróm (Skutočné meno) Pierre Robinov syndróm
MDT	C14.280.067.565.070C14.280.123.625.070C16.131.240.400.715.070C23.550.073.547.070
Poznámka	A 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.

predmetové heslo

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