{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T10:09:54Z","timestamp":1790244594459,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>KAT6A syndrome (Arboleda\u2013Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized. We describe two pediatric patients from Canada and Korea who developed severe bone marrow failure and were successfully treated with hematopoietic stem cell transplantation. One carried an upstream truncating variant, the other a downstream frameshift; both disrupted domains critical for transcriptional regulation. The literature review revealed additional cases with cytopenias. Our findings highlight bone marrow failure as an overlooked feature of KAT6A syndrome.<\/jats:p>","DOI":"10.1002\/1545-5017.70023","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T07:45:33Z","timestamp":1766735133000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-3493","authenticated-orcid":false,"given":"Ye Jee","family":"Shim","sequence":"first","affiliation":[{"name":"Department of Pediatrics School of Medicine Kyungpook National University  Daegu Republic of Korea"},{"name":"Pediatric Hematology\/Oncology Kyungpook National University Children's Hospital  Daegu Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce","family":"Crooks","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology IWK Health Centre  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyoung Jin","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-1988","authenticated-orcid":false,"given":"Kyung Taek","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Yoon","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Ra","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Pathology Keimyung University School of Medicine Keimyung University Dongsan Hospital  Daegu Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Ahn","family":"Seol","sequence":"additional","affiliation":[{"name":"GC Genome  Yongin Republic of Korea"},{"name":"GC Labs  Yongin Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rinu","family":"Mathew","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3953-1477","authenticated-orcid":false,"given":"Yigal","family":"Dror","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Division of Hematology\/Oncology, Department of Pediatrics The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Institute of Medical Science University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.017"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.016"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M705812200"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01297-08"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0259-2"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1393106"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-10-676072"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/imm.12072"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1382606"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37969"},{"issue":"1","key":"e_1_2_11_13_1","article-title":"A Case of KAT6A Syndrome With a Newly Discovered Mutation in the KAT6A Gene, Mainly Manifested as Bone Marrow Failure Syndrome","volume":"28","author":"Ai Q.","year":"2023","journal-title":"Hematology (Amsterdam, Netherlands)"}],"container-title":["Pediatric Blood &amp; 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