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Higashi H, Barendregt JJ, Kassebaum NJ, Weiser TG, Bickler SW, Vos T. The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: Cleft lip and palate, congenital heart anomalies and neural tube defects. Arch Dis Child. 2015; 100(3): 233-238.HigashiHBarendregtJJKassebaumNJWeiserTGBicklerSWVosTThe burden of selected congenital anomalies amenable to surgery in low and middle-income regions: Cleft lip and palate, congenital heart anomalies and neural tube defects2015100323323810.1136/archdischild-2014-30617525260520Search in Google Scholar
Ware SM, Jefferies JL. New genetic insights into congenital heart disease. J Clin Exp Cardiol. 2012; S8: 003.WareSMJefferiesJLNew genetic insights into congenital heart disease2012S8003Search in Google Scholar
Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, et al. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: A case report and systematic literature review. BMC Med Genet. 2018; 19(1): 31.XinCWangCWangYZhaoJWangLLiRet alIdentification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: A case report and systematic literature review20181913110.1186/s12881-018-0545-5638905529482518Search in Google Scholar
Adam MP, Banka S, Bjomsson HT, Bodamer O, Chudley AE, Harris J, et al. ; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: International consensus diagnostic criteria. J Med Genet. 2019; 56(2): 89-95.AdamMPBankaSBjomssonHTBodamerOChudleyAEHarrisJet alKabuki Syndrome Medical Advisory Board. Kabuki syndrome: International consensus diagnostic criteria2019562899510.1136/jmedgenet-2018-10562530514738Search in Google Scholar
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, et al. Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet A. 2017; 173(11): 2912-2922.DigilioMCGnazzoMLepriFDenticiMLPisaneschiEBabanAet alCongenital heart defects in molecularly proven Kabuki syndrome patients2017173112912292210.1002/ajmg.a.3841728884922Search in Google Scholar
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum Mutat. 2016; 37(9): 847-864.BögershausenNGatinoisVRiehmerVKayseriliHBeckerJThoenesMet alMutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2201637984786410.1002/humu.2302627302555Search in Google Scholar
Bögershausen N, Tsai I-C, Pohl E, Kiper PÖS, Beleggia F, Percin EF, et al. RAP 1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest. 2015; 125(9): 3585-3599.BögershausenNTsaiI-CPohlEKiperPÖSBeleggiaFPercinEFet alRAP 1-mediated MEK/ERK pathway defects in Kabuki syndrome201512593585359910.1172/JCI80102458828726280580Search in Google Scholar
Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat. 2015; 36(10): 1009-1014.AuPYBYouJCaluseriuOSchwartzentruberJMajewskiJBernierFPet alGeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK201536101009101410.1002/humu.22837458922626173930Search in Google Scholar
Adam MP. Insights into the molecular genetics of Kabuki syndrome. Add Genomics Genet. 2015; 5: 121-129.AdamMPInsights into the molecular genetics of Kabuki syndrome2015512112910.2147/AGG.S58588Search in Google Scholar
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, et al. Kabuki syndrome: Clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2015; 100(2): 158-164.DenticiMLDi PedeALepriFRGnazzoMLombardiMHAuritiCet alKabuki syndrome: Clinical and molecular diagnosis in the first year of life2015100215816410.1136/archdischild-2013-30585825281733Search in Google Scholar
Schutte BC, Saal HM, Goudy S, Leslie E, Adam MP, Ardinger HH, et al., Editors. IRF6-Related disorders. GeneReviews® [Internet] (1993-2019). Seattle, WA, USA: University of Washington, Seattle, WA, USA; 1993-2020. https://www.ncbi.nhn.nih.gov/books/NBK1407/ accessed November 7 2019).SchutteBCSaalHMGoudySLeslieEAdamMPArdingerHHet alSeattle, WA, USAUniversity of WashingtonSeattle, WA, USA; 1993-2020https://www.ncbi.nhn.nih.gov/books/NBK1407/accessed November 72019Search in Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424.RichardsSAzizNBaleSBickDDasSGastier-FosterJet alStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology201517540542410.1038/gim.2015.30454475325741868Search in Google Scholar
Makrythanasis P, van Bon B W, Steehouwer M, Rodruez-Santiago B, Simpson M, Dias P, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study. Clin Genet. 2013; 84(6): 539-545.MakrythanasisPvan BonB WSteehouwerMRodruez-SantiagoBSimpsonMDiasPet alMLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study201384653954510.1111/cge.12081Search in Google Scholar
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981; 99(4): 565-569.NiikawaNMatsuuraNFukushimaYOhsawaTKajiiTKabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency198199456556910.1016/S0022-3476(81)80255-7Search in Google Scholar
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral Assures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981; 99(4): 570-573.KurokiYSuzukiYChyoHHataAMatsuiIA new malformation syndrome of long palpebral Assures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation198199457057310.1016/S0022-3476(81)80256-9Search in Google Scholar
Bögershausen N, Wollnikb B. Unmasking Kabuki syndrome. Clin Genet. 2013; 83(3): 201-211.BögershausenNWollnikbBUnmasking Kabuki syndrome201383320121110.1111/cge.12051Search in Google Scholar
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, et al. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr. 2013; 163(3): 742-746.CourcetJBFaivreLMichotCBurguetAPerez-MartinSAlixEet alClinical and molecular spectrum of renal malformations in Kabuki syndrome2013163374274610.1016/j.jpeds.2013.02.032Search in Google Scholar
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome. Nat Genet. 2010; 42(9): 790-793.NgSBBighamAWBuckinghamKJHannibalMCMcMillinMJGildersleeveHIet alExome sequencing identifies MLL2 mutations as a cause of kabuki syndrome201042979079310.1038/ng.646Search in Google Scholar
Froimchuk E, Jang Y, Ge K. Histone H3 lysine 4 methyltransferase KMT2D. Gene. 2017; 627: 337-342.FroimchukEJangYGeKHistone H3 lysine 4 methyltransferase KMT2D201762733734210.1016/j.gene.2017.06.056Search in Google Scholar
Ansari KI, Hussain I, Shrestha B, Kasiri S, Mandal SS. HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment. J Mol Biol. 2011; 411(2): 334-349.AnsariKIHussainIShresthaBKasiriSMandalSSHOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment2011411233434910.1016/j.jmb.2011.05.050Search in Google Scholar
Garcia-Gasca A, Spyropoulos DD. Differential mammary morphogenesis along the anteroposterior axis in Hoxc6 gene targeted mice. Dev Dyn. 2000; 219(2): 261-276.Garcia-GascaASpyropoulosDDDifferential mammary morphogenesis along the anteroposterior axis in Hoxc6 gene targeted mice2000219226127610.1002/1097-0177(2000)9999:9999<::AID-DVDY1048>3.0.CO;2-3Search in Google Scholar
Moon JE, Lee SJ, Ko CW. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: A case report. BMC Med Genet. 2018; 19(1): 102.MoonJELeeSJKoCWA de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: A case report201819110210.1186/s12881-018-0606-9Search in Google Scholar
Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, et al. Kabuki syndrome genes KMT2D and KDM6A: Functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015; 24(15): 4443-4453.Van LaarhovenPMNeitzelLRQuintanaAMGeigerEAZackaiEHClouthierDEet alKabuki syndrome genes KMT2D and KDM6A: Functional analyses demonstrate critical roles in craniofacial, heart and brain development201524154443445310.1093/hmg/ddv180449240325972376Search in Google Scholar
Schott DA, Gerver WJM, Stumpel CTRM. Growth hormone stimulation tests in children with Kabuki syndrome. Clinical Trial. Horm Res Paediatr. 2016; 86(5): 319-324.SchottDAGerverWJMStumpelCTRMGrowth hormone stimulation tests in children with Kabuki syndrome. Clinical Trial201686531932410.1159/00044922127649541Search in Google Scholar
Schott DA, Gerver WJM, Stumpel CTRM. Growth hormone therapy in children with Kabuki syndrome: 1-year treatment results. Horm Res Paediatr. 2017; 88(3-4): 258-264.SchottDAGerverWJMStumpelCTRMGrowth hormone therapy in children with Kabuki syndrome: 1-year treatment results2017883-425826410.1159/00047936828793284Search in Google Scholar
Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, et al. Molecular, clinical and neu-ropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017; 92(3): 298-305.LehmanNMazeryACVisierABaumannCLachesnaisDCapriYet alMolecular, clinical and neu-ropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations201792329830510.1111/cge.1301028295206Search in Google Scholar