Article
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Human molecular genetics - 25 Mar 2021
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 M, Høvding Gunnar, Haugen Olav H, Houge Gunnar, Rødahl Eyvind, Bruland Ove
Abstract excerpt
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 otherwise healthy. The overgrowth in OPDKD affects body parts that typically have lower temperature than 37°C. We present evidence that OPDKD is associated with a temperature sensitive,...
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