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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.
PMID:39733931
Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects.
Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN.
AJNR Am J Neuroradiol. 2011 Jan;32(1):14-9. doi: 10.3174/ajnr.A2072. Epub 2010 Mar 18.
PMID:20299437
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Paller AS, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Granier Tournier C, Hovnanian A, Aldwin-Easton M, Tadini G, Schwartz J, Sprecher E, Malovitski K, Ishida-Yamamoto A, Choate K, Akiyama M, O'Toole EA, Fischer J, Bodemer C, Gostynski A, Schmuth M.
Br J Dermatol. 2025 Sep 18;193(4):592-618. doi: 10.1093/bjd/ljaf123.
PMID:40184496
[Barakat syndrome].
Berkešová BA, Borbély Z.
Vnitr Lek. 2023 Summer;69(E-3):16-19. doi: 10.36290/vnl.2023.036.
PMID:37468331
[Pulmonaryrenal syndrome].
Hrušková Z, Tesař V.
Vnitr Lek. 2020 Spring;66(5):56-61.
PMID:32942871
[Landau-Kleffner syndrome].
Elliger TJ, Trott GE, Hoffmeyer O, Nissen G.
Fortschr Neurol Psychiatr. 1990 Apr;58(4):125-36. doi: 10.1055/s-2007-1001176.
PMID:1693907
Retinitis pigmentosa.
Hamel C.
Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40.
PMID:17032466
Niikawa-Kuroki syndrome.
Roccella M.
Minerva Pediatr. 1999 Jul-Aug;51(7-8):271-8.
PMID:10634060
Paraneoplastic rheumatologic syndromes.
Azar L, Khasnis A.
Curr Opin Rheumatol. 2013 Jan;25(1):44-9. doi: 10.1097/BOR.0b013e328359e780.
PMID:23026875
Venous ischemic syndromes.
Ageno W, Dentali F.
Front Neurol Neurosci. 2012;30:191-4. doi: 10.1159/000333644. Epub 2012 Feb 14.
PMID:22377893
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