{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T08:21:27Z","timestamp":1771402887063,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>GATA2<\/jats:italic>\n                    and\n                    <jats:italic>ZNF148<\/jats:italic>\n                    have both been mapped to chromosome 3q. Pathogenic variants in\n                    <jats:italic>GATA2<\/jats:italic>\n                    have been associated with immunodeficiency and high risk for myelodysplasia, acute myeloid leukemia, and chronic myelomonocytic leukemia. Gain\u2010of\u2010function variants in\n                    <jats:italic>ZNF148<\/jats:italic>\n                    have previously been suggested as a mechanism for agenesis of the corpus callosum (ACC). Here, we report a novel 10.4\u2009Mb interstitial deletion on 3q12.33q22.1 including\n                    <jats:italic>GATA2<\/jats:italic>\n                    and\n                    <jats:italic>ZNF148<\/jats:italic>\n                    in a child with developmental delay, agenesis of the corpus callosum, and vertebral segmentation defects. With this diagnosis, we were able to suggest preemptive referrals to hematology\/oncology and allergy\/immunology for close monitoring of early myelodysplasia. We also propose a possible link between\n                    <jats:italic>ZNF148<\/jats:italic>\n                    loss of function variants and ACC.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63621","type":"journal-article","created":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T08:48:35Z","timestamp":1712134115000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel 3q interstitial deletion including\n                    <i>GATA2<\/i>\n                    and\n                    <i>ZNF148<\/i>\n                    : A case report"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6364-4187","authenticated-orcid":false,"given":"Elizabeth","family":"Martin","sequence":"first","affiliation":[{"name":"Michigan State University College of Human Medicine  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"VanSickle","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Corewell Health  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda Z.","family":"Rossetti","sequence":"additional","affiliation":[{"name":"Michigan State University College of Human Medicine  Grand Rapids Michigan USA"},{"name":"Division of Medical Genetics and Genomics Corewell Health  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,3]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"1","article-title":"A case report of partial deletion of the long arm of the no. 3 chromosome","volume":"4","author":"Arai K.","year":"1982","journal-title":"Medical Genetical 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