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| 1 | Catherine Yang | + 530 word(s) | 530 | 2020-12-15 07:17:50 |
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Yang, C. Boomerang Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5001 (accessed on 16 September 2026).
Yang C. Boomerang Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5001. Accessed September 16, 2026.
Yang, Catherine. "Boomerang Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/5001 (accessed September 16, 2026).
Yang, C. (2020, December 24). Boomerang Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/5001
Yang, Catherine. "Boomerang Dysplasia." Encyclopedia. Web. 24 December, 2020.
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Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
genetic conditions
References
- Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH,Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet.2005 Jul;42(7):e43.
- Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C,Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H,Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A,Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations inthe gene encoding filamin B disrupt vertebral segmentation, joint formation andskeletogenesis. Nat Genet. 2004 Apr;36(4):405-10.
- Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associatedsubstitutions in the filamin B actin binding domain confer enhanced actin bindingaffinity in the absence of major structural disturbance: Insights from thecrystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009.
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