Mutations in FLNB cause boomerang dysplasia.
Ontology highlight
ABSTRACT:
SUBMITTER: Bicknell LS
PROVIDER: S-EPMC1736093 | biostudies-other | 2005 Jul
REPOSITORIES: biostudies-other
Publications
Mutations in FLNB cause boomerang dysplasia.
Bicknell L S LS Morgan T T Bonafé L L Wessels M W MW Bialer M G MG Willems P J PJ Cohn D H DH Krakow D D Robertson S P SP
Journal of medical genetics 20050701 7
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 i ...[more]
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