Etiology
Nolano M,
Provitera V,
Caporaso G,
Fasolino I,
Borreca I,
Stancanelli A,
Iuzzolino VV,
Senerchia G,
Vitale F,
Tozza S,
Ruggiero L,
Iodice R,
Ferrari S,
Santoro L,
Manganelli F,
Dubbioso R
Brain
2024 May 3;147(5):1740-1750.
doi: 10.1093/brain/awad426.
PMID: 38123494
Golden CS,
Williams S,
Serrano MA
Birth Defects Res
2023 Nov 15;115(19):1809-1824.
Epub 2023 May 9
doi: 10.1002/bdr2.2183.
PMID: 37158694Free PMC Article
Caillat M,
Degott J,
Wuerzner A,
Proençain M,
Bonnier G,
Knebel JF,
Stoll C,
Christen U,
Durgnat V,
Hofmann G,
Burnier M,
Wuerzner G,
Schoettker P
Blood Press
2022 Dec;31(1):288-296.
doi: 10.1080/08037051.2022.2132214.
PMID: 36266938
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
Hicdonmez T
Turk Neurosurg
2017;27(4):585-589.
doi: 10.5137/1019-5149.JTN.16886-15.2.
PMID: 27476922
Diagnosis
Golden CS,
Williams S,
Serrano MA
Birth Defects Res
2023 Nov 15;115(19):1809-1824.
Epub 2023 May 9
doi: 10.1002/bdr2.2183.
PMID: 37158694Free 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
Murali CN,
Keena B,
Zackai EH
Clin Dysmorphol
2018 Oct;27(4):135-137.
doi: 10.1097/MCD.0000000000000230.
PMID: 29864040Free PMC Article
Hicdonmez T
Turk Neurosurg
2017;27(4):585-589.
doi: 10.5137/1019-5149.JTN.16886-15.2.
PMID: 27476922
Cambiaghi S,
Imondi D,
Gangi S,
Vegni C
Cutis
2000 Dec;66(6):465-7.
PMID: 11138366
Therapy
Aoki Y,
Kitazawa K,
Kobayashi H
Paediatr Int Child Health
2019 May;39(2):142-145.
Epub 2018 Feb 19
doi: 10.1080/20469047.2018.1435173.
PMID: 29457989
Buntic RF,
Brooks D
J Hand Surg Am
2010 Sep;35(9):1491-6.
doi: 10.1016/j.jhsa.2010.06.004.
PMID: 20807626
Cambiaghi S,
Imondi D,
Gangi S,
Vegni C
Cutis
2000 Dec;66(6):465-7.
PMID: 11138366
Brammer AJ,
Pyykkö I
Scand J Work Environ Health
1987 Aug;13(4):317-22.
doi: 10.5271/sjweh.2052.
PMID: 2829347
Crotty CP,
Dicken CH
Arch Dermatol
1981 Mar;117(3):158-9.
PMID: 7212730
Prognosis
Nolano M,
Provitera V,
Caporaso G,
Fasolino I,
Borreca I,
Stancanelli A,
Iuzzolino VV,
Senerchia G,
Vitale F,
Tozza S,
Ruggiero L,
Iodice R,
Ferrari S,
Santoro L,
Manganelli F,
Dubbioso R
Brain
2024 May 3;147(5):1740-1750.
doi: 10.1093/brain/awad426.
PMID: 38123494
Schultz K,
Wolf JM
J Hand Surg Am
2020 Jun;45(6):518-522.
Epub 2020 Apr 30
doi: 10.1016/j.jhsa.2020.04.024.
PMID: 32387155Free PMC Article
Le Hanneur M,
Cambon-Binder A,
Bachy M,
Fitoussi F
Hand Surg Rehabil
2020 May;39(3):143-153.
Epub 2020 Mar 3
doi: 10.1016/j.hansur.2019.12.003.
PMID: 32142954
Murali CN,
Keena B,
Zackai EH
Clin Dysmorphol
2018 Oct;27(4):135-137.
doi: 10.1097/MCD.0000000000000230.
PMID: 29864040Free PMC Article
Hicdonmez T
Turk Neurosurg
2017;27(4):585-589.
doi: 10.5137/1019-5149.JTN.16886-15.2.
PMID: 27476922
Clinical prediction guides
Nolano M,
Provitera V,
Caporaso G,
Fasolino I,
Borreca I,
Stancanelli A,
Iuzzolino VV,
Senerchia G,
Vitale F,
Tozza S,
Ruggiero L,
Iodice R,
Ferrari S,
Santoro L,
Manganelli F,
Dubbioso R
Brain
2024 May 3;147(5):1740-1750.
doi: 10.1093/brain/awad426.
PMID: 38123494
Golden CS,
Williams S,
Serrano MA
Birth Defects Res
2023 Nov 15;115(19):1809-1824.
Epub 2023 May 9
doi: 10.1002/bdr2.2183.
PMID: 37158694Free PMC Article
Le Hanneur M,
Cambon-Binder A,
Bachy M,
Fitoussi F
Hand Surg Rehabil
2020 May;39(3):143-153.
Epub 2020 Mar 3
doi: 10.1016/j.hansur.2019.12.003.
PMID: 32142954
Nolano M,
Manganelli F,
Provitera V,
Pisciotta C,
Stancanelli A,
Caporaso G,
Iodice R,
Shy ME,
Santoro L
Neurology
2015 Jan 27;84(4):407-14.
Epub 2014 Dec 24
doi: 10.1212/WNL.0000000000001188.
PMID: 25540311Free PMC Article
Cambiaghi S,
Imondi D,
Gangi S,
Vegni C
Cutis
2000 Dec;66(6):465-7.
PMID: 11138366