Bastiaansen AEM, van Steenhoven RW, de Bruijn MAAM, Crijnen YS, van Sonderen A, van Coevorden-Hameete MH, Nühn MM, Verbeek MM, Schreurs MWJ, Sillevis Smitt PAE, de Vries JM, Jan de Jong F, Titulaer MJ.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J.
Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1.
PMID:32483926
Retinitis pigmentosa.
Hamel C.
Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40.
PMID:17032466
Twiddler's syndrome.
Dharawat R, Saadat M.
Acta Med Acad. 2016 Nov;45(2):169-170. doi: 10.5644/ama2006-124.174.
PMID:28000494
Geriatric syndromes--vascular disorders?
Strandberg TE, Pitkälä KH, Tilvis RS, O'Neill D, Erkinjuntti TJ.
Ann Med. 2013 May;45(3):265-73. doi: 10.3109/07853890.2012.727022. Epub 2012 Oct 16.
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J.
J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5.
PMID:39578275
The steal syndromes.
Toole JF, McGraw CP.
Annu Rev Med. 1975;26:321-9. doi: 10.1146/annurev.me.26.020175.001541.