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Kabuki syndrome相关文献:
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.
PMID:33805950
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.
PMID:31587141
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M.
2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:21882399
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.
PMID:30514738
Kabuki Syndrome.
Neumann D, Karnik R.
2024 Jun 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:38917269
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.
PMID:36292647
Kabuki syndrome revisited.
Bokinni Y.
J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar 22.
PMID:22437206
Unmasking Kabuki syndrome.
Bögershausen N, Wollnik B.
Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
PMID:23131014
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.
PMID:27302555
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.
PMID:31727177
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