Latest Research

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Boomerang dysplasia

  1. A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging.
  2. Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
  3. Filamin B mutations cause chondrocyte defects in skeletal development.
  4. Boomerang dysplasia. A new form of neonatal death dwarfism.
  5. Prenatal diagnosis of boomerang dysplasia.
  6. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
  7. Boomerang dysplasia.
  8. Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.
  9. Boomerang bone disease: bilateral dysplasia of ulna and fibula.
  10. Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
  11. Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.
  12. Atelosteogenesis I and boomerang dysplasia: a question of nosology.
  13. [Skeletal dysplasia, boomerang dysplasia]
  14. Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
  15. Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.
  16. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
  17. Boomerang dysplasia.
  18. Mutations in FLNB cause boomerang dysplasia.
  19. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
  20. A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome.