Browsing by Subject "Leri-Weill syndrome"

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    • A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects 
      Poggi, Helena; Vera, Alejandra; Avalos, Carolina; Lagos, Marcela; Mellado, Cecilia; Aracena, Mariana; Aravena Cerda, Teresa; García, Hernán; Godoy, Claudio; Cattani, Andreína; Reyes, Loreto; Lacourt, Patricia; Rumie, Hana; Mericq, Verónica; Arriaza, Marta; Martinez Aguayo, Alejandro (Karger, 2015)
      Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. Aim: To describe the molecular and ...