Browsing by Author "Moya, Graciela"

Now showing items 1-1 of 1

    • Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing ... 
      Romero, Pablo T.; Donoso, Rodrigo; López, Pamela; Miranda, Ana; Rodríguez, Leandro; Chrzanowsky, Dominique; Asenjo, Maria S.; Burgos, Gonzalo; Villegas, Pablo; Desir, Julie; Moya, Graciela; Herrera, Luisa M. (Taylor and Francis Ltd, 2019)
      Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which ...