{"id":"https://openalex.org/W4380077553","doi":"https://doi.org/10.1002/ajmg.c.32054","title":"Unmasking the challenges of Kabuki syndrome in adulthood: A case series","display_name":"Unmasking the challenges of Kabuki syndrome in adulthood: A case series","publication_year":2023,"publication_date":"2023-06-01","ids":{"openalex":"https://openalex.org/W4380077553","doi":"https://doi.org/10.1002/ajmg.c.32054","pmid":"https://pubmed.ncbi.nlm.nih.gov/37296540"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.c.32054","doi":"https://doi.org/10.1002/ajmg.c.32054","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.c.32054","pdf_url":null,"source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5058553105","display_name":"Jessica R. C. Priestley","orcid":"https://orcid.org/0000-0001-5457-7188","observed_orcids":["https://orcid.org/0000-0001-5457-7188"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jessica R. C. Priestley","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":"https://orcid.org/0000-0001-5457-7188","affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067908626","display_name":"Alyssa L. Rippert","orcid":"https://orcid.org/0000-0003-4735-5223","observed_orcids":["https://orcid.org/0000-0003-4735-5223"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alyssa L. Rippert","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064031873","display_name":"Courtney Condit","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1343052199","display_name":"Kaiser Permanente","ror":"https://ror.org/00t60zh31","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1343052199"]},{"id":"https://openalex.org/I4210165405","display_name":"Kaiser Permanente Tysons Corner Medical Center","ror":"https://ror.org/05xenh663","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343052199","https://openalex.org/I4210165405"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Courtney Condit","raw_affiliation_strings":["Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","Kaiser Permanente Tysons Corners Medical Center  Virginia USA","Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Kaiser Permanente, Tysons Corners Medical Center, Virginia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Kaiser Permanente Tysons Corners Medical Center  Virginia USA","institution_ids":["https://openalex.org/I1343052199","https://openalex.org/I4210165405"]},{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Kaiser Permanente, Tysons Corners Medical Center, Virginia, USA","institution_ids":["https://openalex.org/I1343052199","https://openalex.org/I4210165405"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073920005","display_name":"Kosuke Izumi","orcid":"https://orcid.org/0000-0002-7922-7480","observed_orcids":["https://orcid.org/0000-0002-7922-7480"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kosuke Izumi","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071525001","display_name":"Staci Kallish","orcid":"https://orcid.org/0000-0003-2515-2097","observed_orcids":["https://orcid.org/0000-0003-2515-2097"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Staci Kallish","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073553407","display_name":"Theodore G. Drivas","orcid":"https://orcid.org/0000-0002-8717-0111","observed_orcids":["https://orcid.org/0000-0002-8717-0111"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Theodore G. Drivas","raw_affiliation_strings":["Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA"],"raw_orcid":"https://orcid.org/0000-0002-8717-0111","affiliations":[{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5073553407"],"corresponding_institution_ids":["https://openalex.org/I79576946"],"apc_list":{"value":3140,"currency":"USD","value_usd":3140},"apc_paid":null,"fwci":0.6645,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.65896937,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":97},"biblio":{"volume":"193","issue":"2","first_page":"128","last_page":"138"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6909000277519226,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6909000277519226,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.27559998631477356,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.007499999832361937,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kabuki-syndrome","display_name":"Kabuki syndrome","score":1.0},{"id":"https://openalex.org/keywords/kmt2d","display_name":"KMT2D","score":0.9120000004768372},{"id":"https://openalex.org/keywords/kdm6a","display_name":"KDM6A","score":1.0},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7200000286102295},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9440000057220459},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8730000257492065},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.8989999890327454},{"id":"https://openalex.org/keywords/neurodevelopmental-phenotype","display_name":"neurodevelopmental phenotype","score":0.7960000038146973},{"id":"https://openalex.org/keywords/psychiatric-phenotypes","display_name":"psychiatric phenotypes","score":0.9570000171661377},{"id":"https://openalex.org/keywords/cancer-risk","display_name":"cancer risk","score":0.8429999947547913},{"id":"https://openalex.org/keywords/premature-aging","display_name":"premature aging","score":0.8859999775886536},{"id":"https://openalex.org/keywords/accelerated-aging","display_name":"accelerated aging","score":0.5809999704360962},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.7360000014305115}],"concepts":[{"id":"https://openalex.org/C2776672705","wikidata":"https://www.wikidata.org/wiki/Q1538227","display_name":"Kabuki syndrome","level":2,"score":0.9178157448768616},{"id":"https://openalex.org/C2776284039","wikidata":"https://www.wikidata.org/wiki/Q199701","display_name":"Kabuki","level":2,"score":0.816102147102356},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.7206474542617798},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.6862640976905823},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.5602169036865234},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4899679720401764},{"id":"https://openalex.org/C163276114","wikidata":"https://www.wikidata.org/wiki/Q484591","display_name":"Natural history","level":2,"score":0.4793282747268677},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4568617343902588},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.35552817583084106},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3285471200942993},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24442005157470703},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.17086303234100342},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.09606191515922546},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08534011244773865},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.0},{"id":"https://openalex.org/C153349607","wikidata":"https://www.wikidata.org/wiki/Q36649","display_name":"Visual arts","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006402","descriptor_name":"Hematologic Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015837","descriptor_name":"Vestibular Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015837","descriptor_name":"Vestibular Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.c.32054","doi":"https://doi.org/10.1002/ajmg.c.32054","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.c.32054","pdf_url":null,"source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},{"id":"pmid:37296540","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37296540","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part C, Seminars in medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7400000095367432,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W1792586648","https://openalex.org/W1812836591","https://openalex.org/W1955152225","https://openalex.org/W1990182880","https://openalex.org/W1994441122","https://openalex.org/W2007687459","https://openalex.org/W2010244622","https://openalex.org/W2023752776","https://openalex.org/W2029072997","https://openalex.org/W2037102555","https://openalex.org/W2041746658","https://openalex.org/W2058330915","https://openalex.org/W2084019637","https://openalex.org/W2093274439","https://openalex.org/W2093716213","https://openalex.org/W2133850476","https://openalex.org/W2155445544","https://openalex.org/W2289418783","https://openalex.org/W2429820528","https://openalex.org/W2809277256","https://openalex.org/W2901316923","https://openalex.org/W2902757858","https://openalex.org/W2906293101","https://openalex.org/W2944434778","https://openalex.org/W2955248709","https://openalex.org/W3049072331","https://openalex.org/W3126898726","https://openalex.org/W4206787733","https://openalex.org/W4308298493","https://openalex.org/W6671752404","https://openalex.org/W6834792431"],"related_works":["https://openalex.org/W7128863434","https://openalex.org/W3049072331","https://openalex.org/W7160621259","https://openalex.org/W3137005105","https://openalex.org/W4290636323","https://openalex.org/W4399264593","https://openalex.org/W4386861304","https://openalex.org/W2081959261","https://openalex.org/W1994073345","https://openalex.org/W2057491473"],"abstract_inverted_index":{"Kabuki":[0,78],"syndrome":[1],"is":[2,43],"a":[3,69,113],"recognizable":[4],"Mendelian":[5],"disorder":[6],"characterized":[7],"by":[8],"the":[9,33,46,50,53,66,92,105],"clinical":[10],"constellation":[11],"of":[12,49,68,73,81],"childhood":[13],"hypotonia,":[14],"developmental":[15],"delay":[16],"or":[17,30],"intellectual":[18],"impairment,":[19],"and":[20,41,61,107,117,119],"characteristic":[21],"dysmorphism":[22],"resulting":[23],"from":[24],"monoallelic":[25],"pathogenic":[26],"variants":[27],"in":[28],"KMT2D":[29],"KDM6A.":[31],"In":[32],"medical":[34,110],"literature,":[35],"most":[36],"reported":[37],"patients":[38,76],"are":[39,83],"children,":[40],"data":[42],"lacking":[44],"on":[45,101],"natural":[47],"history":[48],"condition":[51],"across":[52,104],"lifespan,":[54,106],"with":[55,77],"little":[56],"known":[57],"about":[58],"adult-specific":[59],"presentations":[60],"symptoms.":[62],"Here,":[63],"we":[64],"report":[65],"results":[67],"retrospective":[70],"chart":[71],"review":[72],"eight":[74],"adult":[75,98],"syndrome,":[79],"seven":[80],"whom":[82],"molecularly":[84],"confirmed.":[85],"We":[86],"use":[87],"their":[88],"trajectories":[89],"to":[90,96],"highlight":[91],"diagnostic":[93],"challenges":[94],"unique":[95],"an":[97],"population,":[99],"expand":[100],"neurodevelopmental/psychiatric":[102],"phenotypes":[103],"describe":[108],"adult-onset":[109],"complications,":[111],"including":[112],"potential":[114],"cancer":[115],"risk":[116],"unusual":[118],"striking":[120],"premature/accelerated":[121],"aging":[122],"phenotype.":[123]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":3}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2023-06-10T00:00:00"}