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Xu, C. Kuskokwim Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4444 (accessed on 29 September 2026).
Xu C. Kuskokwim Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4444. Accessed September 29, 2026.
Xu, Camila. "Kuskokwim Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4444 (accessed September 29, 2026).
Xu, C. (2020, December 23). Kuskokwim Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4444
Xu, Camila. "Kuskokwim Syndrome." Encyclopedia. Web. 23 December, 2020.
Kuskokwim Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/kuskokwim-syndrome

Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints.

genetic conditions

References

  1. Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E,Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC.Kuskokwim syndrome, a recessive congenital contracture disorder, extends thephenotype of FKBP10 mutations. Hum Mutat. 2013 Sep;34(9):1279-88. doi:10.1002/humu.22362.
  2. Petajan JH, Momberger GL, Aase J, Wright DG. Arthrogryposis syndrome(Kuskokwim disease) in the Eskimo. JAMA. 1969 Sep 8;209(10):1481-6.
  3. Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G,Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M,Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R,Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS,Weis MA, Eyre D, Byers PH. Mutations in FKBP10, which result in Bruck syndromeand recessive forms of osteogenesis imperfecta, inhibit the hydroxylation oftelopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 648
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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