Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033145/
https://www.ncbi.nlm.nih.gov/pubmed/33450762
http://dx.doi.org/10.1093/hmg/ddab014

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