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
Klecka M,
Janas-Kozik M,
Jelonek I,
Siwiec A,
Rybakowski J
Psychiatr Pol
2017 Apr 30;51(2):335-347.
Epub 2016 Jul 18
doi: 10.12740/PP/OnlineFirst/62014.
PMID: 28581541
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
Strömland K,
Pinazo-Durán MD
Alcohol Alcohol
2002 Jan-Feb;37(1):2-8.
doi: 10.1093/alcalc/37.1.2.
PMID: 11825849
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
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
Le Merrer M,
Cikuli M,
Ribier J,
Briard ML
Am J Med Genet
1989 Jul;33(3):318-22.
doi: 10.1002/ajmg.1320330307.
PMID: 2801764