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

10 Jun 2022

Abstract excerpt

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 PDGFRB have been associated with other human diseases, including Kosaki overgrowth syndrome, infantile...

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PMID: 35689379
DOI: 10.1111/jcmm.17427

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