{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:05:22Z","timestamp":1791849922821,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Kabuki syndrome (KS) is a multisystem disorder characterized by facial dysmorphic features, growth delays, skeletal anomalies, and variable intellectual disability (ID) due to pathogenic variants in <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic>. Significant phenotypic variability has been reported in patients with KS. To further characterize the variability observed in the genomic sequencing era, comprehensive genotypic and phenotypic information from 36 patients with KS and likely pathogenic or pathogenic <jats:italic>KMT2D<\/jats:italic> or <jats:italic>KDM6A<\/jats:italic> variants at the Children's Hospital of Philadelphia (CHOP) was collected. Dysmorphic features, growth restriction, and developmental delays were commonly reported, as expected. Hyperinsulinism (HI) was seen more frequently than in previously published cohorts. Patients diagnosed with HI were more likely to require neonatal intensive care unit admission and feeding tube(s). Intellectual disability was variable in severity and less frequent than previously reported. This study highlights the wide phenotypic spectrum of KS and expands our knowledge of the diagnostic process for KS. This study is limited by potential ascertainment bias as CHOP is a HI Center of Excellence, however, our cohort is unique as many were ascertained with disease\u2010agnostic testing. Screening for hyperinsulinism, including consideration of diagnostic fast, at time of KS diagnosis is warranted to prevent long\u2010term neurologic effects of untreated hypoglycemia.<\/jats:p>","DOI":"10.1002\/ajmg.a.64003","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T11:40:02Z","timestamp":1739360402000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital"],"prefix":"10.1002","volume":"197","author":[{"given":"Victoria","family":"Dortenzio","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidija","family":"Barbaric","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine The University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth T.","family":"Dechene","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C.","family":"Dulik","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine The University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa L.","family":"Rippert","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine The University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105625"},{"key":"e_1_2_10_3_1","volume-title":"GeneReviews ((R))","author":"Adam M. P.","year":"1993"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101761"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.348"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.25"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.89.1.91"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14267"},{"issue":"3","key":"e_1_2_10_10_1","first-page":"171","article-title":"Kabuki Syndrome: Diagnostic and Treatment Considerations","volume":"9","author":"Kasdon B. D.","year":"2012","journal-title":"Mental Health in Family Medicine"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36072"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22229"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(81)80255\u20107"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvae101"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01983409"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63097"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100013\u20109"}],"updated-by":[{"DOI":"10.1002\/ajmg.a.64162","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T00:00:00Z","timestamp":1752105600000}}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T08:42:44Z","timestamp":1746434564000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/ajmg.a.64003"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64003","archive":["Portico"],"relation":{"correction":[{"id-type":"doi","id":"10.1002\/ajmg.a.64162","asserted-by":"object"}]},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,12]]},"assertion":[{"value":"2024-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64003"}}