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The Brugada syndrome (BS) is a hereditary disease characterized by typical electrocardiographic alterations (elevation of the ST segment in right precordial leads) that affects young individuals without structural heart disease, predisposing them to ventricular arrhythmias and sudden death (SD). Several genetic mutations of different subunits of the sodium, calcium and potassium channel have been...
Context Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. Given the increasing relative contribution of genetic diseases to perinatal morbidity and mortality in India, proper recognition and management of holoprosencephaly can improve care...
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