• 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 ...