Disease: Penttinen-Aula syndrome
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
- 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
- Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
- Expansion of the phenotype of Kosaki overgrowth syndrome
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling
- Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation
- Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions
- The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases