Syndromic retinitis pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF.
Prog Retin Eye Res. 2025 Jul;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Epub 2024 Dec 27.
Sunflower syndrome: a poorly understood photosensitive epilepsy.
Geenen KR, Patel S, Thiele EA.
Dev Med Child Neurol. 2021 Mar;63(3):259-262. doi: 10.1111/dmcn.14723. Epub 2020 Oct 31.
Gut fermentation syndrome: A systematic review of case reports.
Bayoumy AB, Mulder CJJ, Mol JJ, Tushuizen ME.
United European Gastroenterol J. 2021 Apr;9(3):332-342. doi: 10.1002/ueg2.12062. Epub 2021 Apr 22.
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM.
Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006.
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM.
Clin Plast Surg. 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009.
Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC.
Facial Plast Surg Clin North Am. 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008.
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.
Hemangioma-related syndromes.
Valdebran M, Wine Lee L.
Curr Opin Pediatr. 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925.
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P.
HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16.
OTX2 Syndromes.
Li C, Tsang S, Sharma T, Diaconita V.
Adv Exp Med Biol. 2025;1467:219-221. doi: 10.1007/978-3-031-72230-1_43.
