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Xu, C. Gillespie Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4006 (accessed on 22 September 2026).
Xu C. Gillespie Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4006. Accessed September 22, 2026.
Xu, Camila. "Gillespie Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4006 (accessed September 22, 2026).
Xu, C. (2020, December 23). Gillespie Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4006
Xu, Camila. "Gillespie Syndrome." Encyclopedia. Web. 23 December, 2020.
Gillespie Syndrome
Edit

Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

genetic conditions

References

  1. Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A,Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.Identification of novel and hotspot mutations in the channel domain of ITPR1 intwo patients with Gillespie syndrome. Gene. 2017 Sep 10;628:141-145. doi:10.1016/j.gene.2017.07.017.
  2. Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, OrssaudC, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A,Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, YuleDI, Rozet JM, Fares Taie L. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet. 2016 May 5;98(5):971-980. doi:10.1016/j.ajhg.2016.03.004.
  3. Hall HN, Williamson KA, FitzPatrick DR. The genetic architecture of aniridiaand Gillespie syndrome. Hum Genet. 2019 Sep;138(8-9):881-898. doi:10.1007/s00439-018-1934-8.
  4. McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E,Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E,Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J,McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P,Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, vanHeyningen V, Marsh JA, Elmslie F, FitzPatrick DR. A Restricted Repertoire of DeNovo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence forDominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-992. doi:10.1016/j.ajhg.2016.03.018.
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Update Date: 23 Dec 2020
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