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Mutations in FLNB cause boomerang dysplasia
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 w...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2005
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736093/ https://ncbi.nlm.nih.gov/pubmed/15994868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029967 |
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