Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia

Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra

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Medicine & Life Sciences