SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

por Vannelli, Silvia, Baffico, Maria, Buganza, Raffaele, Verna, Francesca, Vinci, Giulia, Tessaris, Daniele, Di Rosa, Gianpaolo, Borraccino, Alberto, de Sanctis, Luisa
Publicado 2020

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

por Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara
Publicado 2020