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Genetics Home Reference: Smith-Kingsmore syndrome

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775.… Read More »

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Genetics Home Reference: hypertension

Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery… Read More »

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Genetics Home Reference: 15q11-q13 duplication syndrome

Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Am J Med Genet A. 2016 Oct;170(10):2531-9. doi: 10.1002/ajmg.a.37844. Epub 2016 Aug 11. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C,… Read More »

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