Tag Archives: syndrome’

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 »

Researchers identify genes associated with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) affects one in 10 women of reproductive age. It is characterized by irregular menstrual cycles, facial hair or acne and an increased number of eggs arrested in development. Many women also suffer from weight gain, Type 2 diabetes and depression. While first characterized by the medical community in the mid-1930s, few… Read More »