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