Larsen Syndrome

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Xu, C. Larsen Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4476 (accessed on 27 September 2026).

Xu C. Larsen Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4476. Accessed September 27, 2026.

Xu, Camila. "Larsen Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4476 (accessed September 27, 2026).

Xu, C. (2020, December 23). Larsen Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4476

Xu, Camila. "Larsen Syndrome." Encyclopedia. Web. 23 December, 2020.

Larsen Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/larsen-syndrome

Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.

genetic conditions

References

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y,Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular andclinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98.
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.
Sajnani AK, Yiu CK, King NM. Larsen syndrome: a review of the literature andcase report. Spec Care Dentist. 2010 Nov-Dec;30(6):255-60. doi:10.1111/j.1754-4505.2010.00163.x.
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.
Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE,Johnston CE, Harris S, Cain NM, Wise CA. Mutations responsible for Larsensyndrome cluster in the FLNB protein. J Med Genet. 2006 May;43(5):e24.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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