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Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling

Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet‐derived growth factor (PDGF) receptor beta (encoded by the PDGFRB proto‐oncogene) and characterized by a prematurely aged appearance with lipoatrophy, skin lesions, thin hair and acro‐osteolysis. Activating mutations in...

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Detalles Bibliográficos
Autores principales:	Nédélec, Audrey, Guérit, Emilie M., Dachy, Guillaume, Lenglez, Sandrine, Wong, Lok San, Arts, Florence A., Demoulin, Jean‐Baptiste
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9279580/ https://www.ncbi.nlm.nih.gov/pubmed/35689379 http://dx.doi.org/10.1111/jcmm.17427

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