Browsing by Author "a33c5806-3073-401d-a2e2-d1c85b4220fb"

Now showing items 1-4 of 4

    • Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis 
      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 ...
    • Etiology and treatment of growth delay in noonan syndrome 
      Rodríguez, Fernando Adrián; Gaete Vásquez, Ximena; Cassorla Goluboff, Fernando (Frontiers Media, 2021)
      Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. Longitudinal growth during childhood and adolescence depends ...
    • Molecular study of RAS/ MAPK pathway genes in patients with cryptorchidism 
      Rodríguez, Fernando Adrián; Vallejos, Carla; Unanue, Nancy; Hernández Cárdenas, María Isabel; Celis Lagos, María Soledad; Martin Arenas, Rubén; Palomares Bralo, María; Heath, Karen E.; López Castillo, María Teresa; Cassorla Goluboff, Fernando (Karger, 2017)
    • Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon ... 
      Rodríguez, Fernando Adrián; Castellón, Loreto; Moreno, Regina; Páez, Eduardo; Aracena Álvarez, María Inés (Wiley, 2020)
      We report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, ...