Research & Literature

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Siminas S, Baillie CT, Turnock R

European journal of pediatric surgery reports 2015; (3(1)):54-8 doi:10.1055/s-0035-1547529.

The strong association of left-side heart anomalies with Kabuki syndrome.

Yoon JK, Ahn KJ, Kwon BS, et al.

Korean journal of pediatrics 2015; (58(7)):256-62 doi:10.3345/kjp.2015.58.7.256.

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Roma D, Palma P, Capolino R, et al.

BMC medical genetics 2015; (16()):80 doi:10.1186/s12881-015-0228-4.

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome.

Frans G, Meyts I, Devriendt K, et al.

American journal of medical genetics. Part A 2016; (170(3)):801-3 doi:10.1002/ajmg.a.37499.

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, et al.

Journal of clinical research in pediatric endocrinology 2016; (8(1)):105-6 doi:10.4274/jcrpe.2686.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Yang P, Tan H, Xia Y, et al.

American journal of medical genetics. Part A 2016; (170(6)):1613-21 doi:10.1002/ajmg.a.37634.

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.

Schott DA, Gerver WJ, Stumpel CT

Hormone research in paediatrics 2016; (86(5)):319-324 doi:10.1159/000449221.

Kabuki Syndrome with Cleft Palate.

Paik JM, Lim SY

Archives of plastic surgery 2016; (43(5)):474-6 doi:10.5999/aps.2016.43.5.474.

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC, Gnazzo M, Lepri F, et al.

American journal of medical genetics. Part A 2017; (173(11)):2912-2922 doi:10.1002/ajmg.a.38417.

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E, Schenkel LC, Lin H, et al.

Epigenetics 2017; (12(11)):923-933 doi:10.1080/15592294.2017.1381807.

Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome.

Almécija AC, Pérez V, Baro M, et al.

Journal of pediatric hematology/oncology 2019; (41(2)):e114-e115 doi:10.1097/MPH.0000000000001182.

Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.

Marzollo A, Colavito D, Sartori S, et al.

Journal of clinical immunology 2018; (38(4)):475-477 doi:10.1007/s10875-018-0516-9.

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

Moon JE, Lee SJ, Ko CW

BMC medical genetics 2018; (19(1)):102 doi:10.1186/s12881-018-0606-9.

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D, Augello B, De Nittis P, et al.

Human molecular genetics 2018; (27(21)):3651-3668 doi:10.1093/hmg/ddy241.

Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.

Arsov T, Sestan M, Cekada N, et al.

European journal of medical genetics 2019; (62(6)):103538 doi:10.1016/j.ejmg.2018.09.005.

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.

Kaiwar C, Kruisselbrink TM, Kudva YC, et al.

Clinical immunology (Orlando, Fla.) 2019; (207()):55-57 doi:10.1016/j.clim.2018.09.013.

Kabuki syndrome: international consensus diagnostic criteria.

Adam MP, Banka S, Bjornsson HT, et al.

Journal of medical genetics 2019; (56(2)):89-95 doi:10.1136/jmedgenet-2018-105625.

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

de Billy E, Strocchio L, Cacchione A, et al.

American journal of medical genetics. Part A 2019; (179(1)):113-117 doi:10.1002/ajmg.a.60674.

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Scala M, Morana G, Sementa AR, et al.

Pediatric blood & cancer 2019; (66(9)):e27831 doi:10.1002/pbc.27831.

Capillary malformations in a child with Kabuki syndrome: A case report.

Geers NC, Thio HB, de Kort WJA

JAAD case reports 2019; (5(6)):560-562 doi:10.1016/j.jdcr.2019.05.004.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(1)):181-188 doi:10.1038/s41436-019-0623-x.

Orofacial features and medical profile of eight individuals with Kabuki syndrome.

Silva-Andrade N, López-Ortega K, Gallottini M

Medicina oral, patologia oral y cirugia bucal 2019; (24(5)):e630-e635 doi:10.4317/medoral.22982.

Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.

Theodore-Oklota C, Egan S, Paulich M, et al.

American journal of medical genetics. Part A 2020; (182(7)):1592-1600 doi:10.1002/ajmg.a.61584.

Stress and feelings in mothers and fathers in NICU: identifying risk factors for early interventions.

Ionio C, Mascheroni E, Colombo C, et al.

Primary health care research & development 2019; (20()):e81 doi:10.1017/S1463423619000021.

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.

Cheon CK, Choi HY, Park SH, et al.

Ophthalmic genetics 2021; (42(2)):101-104 doi:10.1080/13816810.2020.1861308.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.

Safarirad M, Ganji AA, Fekrvand S, et al.

Endocrine, metabolic & immune disorders drug targets 2021; (21(11)):2099-2103 doi:10.2174/1871530321666210114153920.

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Merdler-Rabinowicz R, Prat D, Pode-Shakked B, et al.

European journal of medical genetics 2021; (64(6)):104210 doi:10.1016/j.ejmg.2021.104210.

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Boniel S, Szymańska K, Śmigiel R, Szczałuba K

Genes 2021; (12(4)) doi:10.3390/genes12040468.

Dohsa-hou intervention for reciprocal interpersonal interaction for a girl with Kabuki syndrome and autism spectrum disorder.

Kawano J, Fujino H

Clinical case reports 2021; (9(6)):e04296 doi:10.1002/ccr3.4296.

[Clinical and genetic analysis of a child with Niikawa-Kuroki syndrome].

Yu H, Yang J, Wu Z, Liu M

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(8)):753-756 doi:10.3760/cma.j.cn511374-20200313-00163.

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.

Kalinousky AJ, Rapp T, Hijazi H, et al.

Frontiers in genetics 2022; (13()):1007046 doi:10.3389/fgene.2022.1007046.

From Genotype to Phenotype-A Review of Kabuki Syndrome.

Barry KK, Tsaparlis M, Hoffman D, et al.

Genes 2022; (13(10)) doi:10.3390/genes13101761.

Scanxiety among Adults with Cancer: A Scoping Review to Guide Research and Interventions.

Derry-Vick HM, Heathcote LC, Glesby N, et al.

Cancers 2023; (15(5)) doi:10.3390/cancers15051381.

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.

Golden CS, Williams S, Serrano MA

Birth defects research 2023; (115(19)):1809-1824 doi:10.1002/bdr2.2183.

A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome.

Maines E, Maiorana A, Leonardi L, et al.

Endocrine regulations 2023; (57(1)):128-137 doi:10.2478/enr-2023-0016.

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome.

Nunez Stosic M, Gomez P

JCEM case reports 2023; (1(2)):luad032 doi:10.1210/jcemcr/luad032.

The predictive roles of parental stress and intolerance of uncertainty on psychological well-being of parents with a newborn in neonatal intensive care unit: a hierarchical linear regression analysis.

Rambod M, Pasyar N, Mazarei Z, Soltanian M

BMC pediatrics 2023; (23(1)):607 doi:10.1186/s12887-023-04420-4.

KMT2D regulates activation, localization, and integrin expression by T-cells.

Potter SJ, Zhang L, Kotliar M, et al.

Frontiers in immunology 2024; (15()):1341745 doi:10.3389/fimmu.2024.1341745.

Unveiling the Molecular Landscape of Pancreatic Ductal Adenocarcinoma: Insights into the Role of the COMPASS-like Complex.

Jamali M, Barar E, Shi J

International journal of molecular sciences 2024; (25(10)) doi:10.3390/ijms25105069.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Yoon JH, Hwang S, Bae H, et al.

Journal of human genetics 2024; (69(9)):417-423 doi:10.1038/s10038-024-01258-1.

A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy.

Furuzono M, Makimura M, Miyako K

Diabetology international 2024; (15(3)):600-604 doi:10.1007/s13340-024-00720-x.

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

Zhang J, Kang Y, Xia Z, et al.

Frontiers in immunology 2024; (15()):1412084 doi:10.3389/fimmu.2024.1412084.

Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation.

Ba X, Yang X, Zhang Y, et al.

Frontiers in pediatrics 2024; (12()):1455609 doi:10.3389/fped.2024.1455609.

Case report: Kabuki syndrome and persistent hypoglycemia in neonates.

Safdar OY, Abddulghfar MM, Saaty RN, et al.

Journal of family medicine and primary care 2024; (13(12)):5900-5902 doi:10.4103/jfmpc.jfmpc_674_24.

Stress in lockdown: exploring the interplay and effects of cortisol and psychological distress in parent-child dyads.

Bilodeau-Houle A, Duplessis-Marcotte F, Raymond C, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2025; (132(9)):1235-1254 doi:10.1007/s00702-025-02898-z.

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.

Li W, Lin M, Dao J, et al.

Frontiers in genetics 2025; (16()):1523228 doi:10.3389/fgene.2025.1523228.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish.

Shangguan H, Huang J, Wei X, et al.

Communications biology 2025; (8(1)):1311 doi:10.1038/s42003-025-08635-2.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

D'Andrea MM, Leon LR

Journal of vascular surgery cases and innovative techniques 2026; (12(1)):101967 doi:10.1016/j.jvscit.2025.101967.

Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.

Gaudillière M, Armand T, Senée V, et al.

Cureus 2026; (18(1)):e101532 doi:10.7759/cureus.101532.