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DeCS
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Descriptor Inglés:
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Andersen Syndrome
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Descriptor Español:
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Síndrome de Andersen
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Descriptor Portugués:
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Síndrome de Andersen
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Sinónimos Inglés:
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Andersen Cardiodysrhythmic Periodic Paralysis
Andersen Cardiodysrythmic Periodic Paralysis
Andersen Tawil Syndrome
Andersen-Tawil Syndrome
Long QT Syndrome 7
Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
Syndrome, Andersen
Syndrome, Andersen Tawil
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Categoría:
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C14.280.067.565.070
C14.280.123.625.070
C16.131.240.400.715.070
C23.550.073.547.070
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Definición Inglés:
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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. |
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Nota de Indización Inglés:
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do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV
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Relacionados Inglés:
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Pierre Robin Syndrome
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Nota Histórica Inglés:
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2006
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Calificadores Permitidos Inglés:
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Número del Registro:
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50502
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Identificador Único:
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D050030
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Ocurrencia en la BVS:
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Similar:
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DeCS
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