• Corneal Vascularization Associated With a Novel PDGFRB Variant 

      Gladkauskas, Titas; Bruland, Ove; Safieh, Leen Abu; Edward, Deepak P.; Rødahl, Eyvind; Bredrup, Cecilie (Journal article; Peer reviewed, 2023)
      Purpose: The purpose of this study was to identify the genetic cause of aggressive corneal vascularization in otherwise healthy children in one family. Further, to study molecular consequences associated with the identified ...
    • Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 

      Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P.; Hennekam, Raoul C.; Høvding, Gunnar Jr; Haugen, Olav H.; Houge, Gunnar Douzgos; Rødahl, Eyvind; Bruland, Ove (Journal article; Peer reviewed, 2021)
      Ocular pterygium-digital keloid dysplasia (OPDKD) presents in childhood with ingrowth of vascularized connective tissue on the cornea leading to severely reduced vision. Later the patients develop keloids on digits but are ...