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Aniridia, Cerebellar Ataxia, And Intellectual Disability

MedGen UID:
893363
Concept ID:
CN239197
Disease or Syndrome

Recent clinical studies

Etiology

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. PMID: 30249237Free PMC Article

Diagnosis

Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium, Becker EBE, Németh AH
Mov Disord 2024 Jan;39(1):141-151. Epub 2023 Nov 14 doi: 10.1002/mds.29651. PMID: 37964426Free PMC Article
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M
Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov;96 Suppl 1:4-14. Epub 2021 Oct 22 doi: 10.1016/j.oftale.2021.02.002. PMID: 34836588
Rezende Filho FM, Pedroso JL, Freitas JL, Teixeira LF, Barsottini OGP
Arq Neuropsiquiatr 2020 Jun;78(6):383. doi: 10.1590/0004-282X20200013. PMID: 32609195
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR
PLoS One 2016;11(4):e0153757. Epub 2016 Apr 28 doi: 10.1371/journal.pone.0153757. PMID: 27124303Free PMC Article
Edén U, Beijar C, Riise R, Tornqvist K
Acta Ophthalmol 2008 Nov;86(7):730-4. Epub 2008 May 19 doi: 10.1111/j.1755-3768.2008.01310.x. PMID: 18494744

Therapy

Altern Med Rev 2010 Dec;15(4):352-60. PMID: 21194251

Prognosis

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. Epub 2021 May 5 doi: 10.1002/ajmg.a.62232. PMID: 33949769Free PMC Article
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. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38704. PMID: 29663667

Clinical prediction guides

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. Epub 2021 May 5 doi: 10.1002/ajmg.a.62232. PMID: 33949769Free PMC Article
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. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38704. PMID: 29663667

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