Now showing items 1-2 of 2

    • Rodríguez, Fernando Adrián; Unanue Morales, Nancy; Hernández Cárdenas, María Isabel; Basaure, Javiera; Heath, Karen Elise; Cassorla Goluboff, Fernando (2013)
      Aim: L é ri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was ...
    • Lammoglia, Juan Javier; Eyzaguirre, Francisca; Unanue Morales, Nancy; Román, Rossana; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Mericq, Verónica (SOC MEDICA SANTIAGO, 2008-08)
      Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...