Disease: Progeroid syndrome- Penttinen type
- A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
- Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type
- First case report of Penttinen syndrome from India
- Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling