Mutations in FLNB cause boomerang dysplasia.

@article{Bicknell2005MutationsIF,
  title={Mutations in FLNB cause boomerang dysplasia.},
  author={Louise S. Bicknell and Thomas W. Morgan and Luisa Bonafė and Marja W. Wessels and M G Bialer and Patrick J. Willems and Dan H. Cohn and Deborah Krakow and Stephen P Robertson},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 7},
  pages={
          e43
        }
}
Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated… CONTINUE READING

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