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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
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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