Aniridia.
Tripathy K, Salini B.
2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].
Bremond-Gignac D, Robert M, Daruich A, Borderie V, Chiambaretta F, Valleix S; Groupe Rédacteur Relecteur PNDS Aniridie.
J Fr Ophtalmol. 2022 Jun;45(6):647-652. doi: 10.1016/j.jfo.2022.01.005.
[Congenital aniridia in children].
Bremond-Gignac D.
Rev Prat. 2019 Jan;69(1):67-70.
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
Wittig EO, Moreira CA, Freire-Maia N, Vianna-Morgante AM.
Am J Med Genet. 1988 Jul;30(3):703-8. doi: 10.1002/ajmg.1320300302.
Gillespie syndrome: An atypical form and review of the literature.
Nabih O, Hamdani H, ELMaaloum L, Allali B, ELkettani A.
Ann Med Surg (Lond). 2022 Jan 8;74:103244. doi: 10.1016/j.amsu.2022.103244. eCollection 2022 Feb.
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.
Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC.
Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5.
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.
BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5.
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
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.
Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.
[Present limitations of molecular biological diagnostics in Gillespie syndrome].
Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H.
Klin Padiatr. 2001 Mar-Apr;213(2):47-9. doi: 10.1055/s-2001-12875.
