{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T05:46:49Z","timestamp":1751003209302,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004410","name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ftirma Kurumu","doi-asserted-by":"publisher","award":["112S398"],"award-info":[{"award-number":["112S398"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DNA Topoisomerase II\u03b2 (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, <jats:italic>TOP2B<\/jats:italic> (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon\u2010macrostomia\u2010like syndrome. We herein report on a mother and two sons with distinct <jats:italic>TOP2B<\/jats:italic>\u2010phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype\u2013phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild\u2010to\u2010severe immunological, acral and urogenital involvement, for which we propose the acronym \u201c<jats:italic>TOP2B<\/jats:italic>\u2010related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)\u201d.<\/jats:p>","DOI":"10.1111\/cge.14341","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T23:40:00Z","timestamp":1681774800000},"page":"251-258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Revisiting <i>TOP2B<\/i>\u2010related phenotypes: Three new cases and literature review"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2302-3558","authenticated-orcid":false,"given":"Ece","family":"\u00c7epni","sequence":"first","affiliation":[{"name":"Institute of Health Sciences Ko\u00e7 University  Istanbul 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