Etiology
Athota JP,
Bhat M,
Nampoothiri S,
Gowrishankar K,
Narayanachar SG,
Puttamallesh V,
Farooque MO,
Shetty S
BMC Med Genet
2020 Mar 12;21(1):50.
doi: 10.1186/s12881-020-0986-5.
PMID: 32164556Free PMC Article
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.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
PMID: 30514738
Odat TA,
Odat HA,
Khraisat H,
Odat MA,
Alzoubi FQ
Int Ophthalmol
2015 Jun;35(3):375-9.
Epub 2014 Jun 7
doi: 10.1007/s10792-014-9957-1.
PMID: 24906865
Wieczorek D
Clin Genet
2013 Jun;83(6):499-510.
Epub 2013 Apr 8
doi: 10.1111/cge.12123.
PMID: 23565775
Suthers G,
David D,
Clark B
Clin Dysmorphol
1997 Jul;6(3):245-9.
doi: 10.1097/00019605-199707000-00008.
PMID: 9220195
Diagnosis
Marszałek-Kruk BA,
Wójcicki P,
Dowgierd K,
Śmigiel R
Genes (Basel)
2021 Sep 9;12(9)
doi: 10.3390/genes12091392.
PMID: 34573374Free PMC Article
Athota JP,
Bhat M,
Nampoothiri S,
Gowrishankar K,
Narayanachar SG,
Puttamallesh V,
Farooque MO,
Shetty S
BMC Med Genet
2020 Mar 12;21(1):50.
doi: 10.1186/s12881-020-0986-5.
PMID: 32164556Free PMC Article
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.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
PMID: 30514738
Toydemir RM,
Bamshad MJ
Orphanet J Rare Dis
2009 Mar 23;4:11.
doi: 10.1186/1750-1172-4-11.
PMID: 19309503Free PMC Article
Mattina T,
Perrotta CS,
Grossfeld P
Orphanet J Rare Dis
2009 Mar 7;4:9.
doi: 10.1186/1750-1172-4-9.
PMID: 19267933Free PMC Article
Therapy
Mahmoud R,
Leonenko A,
Butler MG,
Flodman P,
Gold JA,
Miller JL,
Roof E,
Dykens E,
Driscoll DJ,
Kimonis V
Clin Genet
2021 Jul;100(1):29-39.
Epub 2021 Mar 13
doi: 10.1111/cge.13947.
PMID: 33615449Free PMC Article
Gomez DA,
May PA,
Tabachnick BG,
Hasken JM,
Lyden ER,
Kalberg WO,
Hoyme HE,
Manning MA,
Adam MP,
Robinson LK,
Jones KL,
Buckley D,
Abdul-Rahman OA
Am J Med Genet A
2020 Oct;182(10):2243-2252.
Epub 2020 Jul 17
doi: 10.1002/ajmg.a.61759.
PMID: 32677343
Schuurs-Hoeijmakers JH,
Landsverk ML,
Foulds N,
Kukolich MK,
Gavrilova RH,
Greville-Heygate S,
Hanson-Kahn A,
Bernstein JA,
Glass J,
Chitayat D,
Burrow TA,
Husami A,
Collins K,
Wusik K,
van der Aa N,
Kooy F,
Brown KT,
Gadzicki D,
Kini U,
Alvarez S,
Fernández-Jaén A,
McGehee F,
Selby K,
Tarailo-Graovac M,
Van Allen M,
van Karnebeek CD,
Stavropoulos DJ,
Marshall CR,
Merico D,
Gregor A,
Zweier C,
Hopkin RJ,
Chu YW,
Chung BH,
de Vries BB,
Devriendt K,
Hurles ME,
Brunner HG;
DDD study
Am J Med Genet A
2016 Mar;170(3):670-5.
Epub 2016 Feb 3
doi: 10.1002/ajmg.a.37476.
PMID: 26842493
Odat TA,
Odat HA,
Khraisat H,
Odat MA,
Alzoubi FQ
Int Ophthalmol
2015 Jun;35(3):375-9.
Epub 2014 Jun 7
doi: 10.1007/s10792-014-9957-1.
PMID: 24906865
Nolan ME
Pediatr Nurs
2003 Nov-Dec;29(6):427-30, 451.
PMID: 14743837
Prognosis
Johnson CM,
Spruiell B,
Wiesen C,
Pimenta LA,
Vann W,
Frazier-Bowers SA
Orthod Craniofac Res
2019 May;22 Suppl 1:56-61.
doi: 10.1111/ocr.12295.
PMID: 31074139
Sharma D,
Murki S,
Pratap T,
Vasikarla M
BMJ Case Rep
2014 May 19;2014
doi: 10.1136/bcr-2014-203923.
PMID: 24842361Free PMC Article
Magoulas PL,
El-Hattab AW
Orphanet J Rare Dis
2012 Jan 4;7:2.
doi: 10.1186/1750-1172-7-2.
PMID: 22216833Free PMC Article
van der Burgt I
Orphanet J Rare Dis
2007 Jan 14;2:4.
doi: 10.1186/1750-1172-2-4.
PMID: 17222357Free PMC Article
Rubinstein JH
Am J Med Genet Suppl
1990;6:3-16.
doi: 10.1002/ajmg.1320370603.
PMID: 2118774
Clinical prediction guides
Neri S,
Maia N,
Fortuna AM,
Damasio J,
Coale E,
Willis M,
Jorge P,
Højte AF,
Fenger CD,
Møller RS,
Bayat A
Eur J Med Genet
2022 Nov;65(11):104624.
Epub 2022 Sep 18
doi: 10.1016/j.ejmg.2022.104624.
PMID: 36130690
Athota JP,
Bhat M,
Nampoothiri S,
Gowrishankar K,
Narayanachar SG,
Puttamallesh V,
Farooque MO,
Shetty S
BMC Med Genet
2020 Mar 12;21(1):50.
doi: 10.1186/s12881-020-0986-5.
PMID: 32164556Free PMC Article
Johnson CM,
Spruiell B,
Wiesen C,
Pimenta LA,
Vann W,
Frazier-Bowers SA
Orthod Craniofac Res
2019 May;22 Suppl 1:56-61.
doi: 10.1111/ocr.12295.
PMID: 31074139
Magoulas PL,
El-Hattab AW
Orphanet J Rare Dis
2012 Jan 4;7:2.
doi: 10.1186/1750-1172-7-2.
PMID: 22216833Free PMC Article
Premalatha,
Kannan VP;
Madhu
J Indian Soc Pedod Prev Dent
2010 Oct-Dec;28(4):322-5.
doi: 10.4103/0970-4388.76169.
PMID: 21273726