Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K.
Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468.
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board.
J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4.
From Genotype to Phenotype-A Review of Kabuki Syndrome.
Barry KK, Tsaparlis M, Hoffman D, Hartman D, Adam MP, Hung C, Bodamer OA.
Genes (Basel). 2022 Sep 29;13(10):1761. doi: 10.3390/genes13101761.
Kabuki Syndrome.
Neumann D, Karnik R.
2024 Jun 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
Kabuki syndrome revisited.
Bokinni Y.
J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar 22.
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Wang YR, Xu NX, Wang J, Wang XM.
World J Pediatr. 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. Epub 2019 Oct 5.
Kabuki syndrome: a review.
Adam MP, Hudgins L.
Clin Genet. 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x.
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R.
Orphanet J Rare Dis. 2019 Nov 14;14(1):255. doi: 10.1186/s13023-019-1219-x.
Using Xenopus to analyze neurocristopathies like Kabuki syndrome.
Schwenty-Lara J, Pauli S, Borchers A.
Genesis. 2021 Feb;59(1-2):e23404. doi: 10.1002/dvg.23404. Epub 2020 Dec 22.
Unmasking Kabuki syndrome.
Bögershausen N, Wollnik B.
Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
