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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Detaylı Bibliyografya
Asıl Yazarlar: Bicknell, L, Morgan, T, Bonafe, L, Wessels, M, Bialer, M, Willems, P, Cohn, D, Krakow, D, Robertson, S
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Electronic Letter
Online Erişim: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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