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Xu, R. PURA Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4875 (accessed on 26 September 2026).
Xu R. PURA Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4875. Accessed September 26, 2026.
Xu, Rita. "PURA Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4875 (accessed September 26, 2026).
Xu, R. (2020, December 24). PURA Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4875
Xu, Rita. "PURA Syndrome." Encyclopedia. Web. 24 December, 2020.
PURA Syndrome
Edit

PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.

genetic conditions

References

  1. Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study,Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios revealsde novo mutations in PURA as a cause of severe neurodevelopmental delay andlearning disability. J Med Genet. 2014 Dec;51(12):806-13. doi:10.1136/jmedgenet-2014-102798.
  2. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A,Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC,Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, ZhuW, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM,Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures,and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014.
  3. Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, RouhlRPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E,Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T,Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K,Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF,Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. PURA syndrome: clinicaldelineation and genotype-phenotype study in 32 individuals with review ofpublished literature. J Med Genet. 2018 Feb;55(2):104-113. doi:10.1136/jmedgenet-2017-104946.
  4. Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, HuntD. PURA-Related Neurodevelopmental Disorders. 2017 Apr 27. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK426063/
  5. Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. De novo mutationsin PURA are associated with hypotonia and developmental delay. Cold Spring HarbMol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.
  6. White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular andviral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7.
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Update Date: 24 Dec 2020
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