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Disease: Acroosteolysis dominant type

  • A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
  • Atypical progeroid syndrome due to heterozygous missense LMNA mutations
  • Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
  • Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
  • Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
  • High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome
  • Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome
  • Uncommon lipodystrophic syndromes
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About CheckOrphan

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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