{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:04:25Z","timestamp":1753869865876,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T00:00:00Z","timestamp":1726531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011645","name":"Kaohsiung Medical University Chung-Ho Memorial Hospital","doi-asserted-by":"publisher","award":["KMUH108\u20108M42"],"award-info":[{"award-number":["KMUH108\u20108M42"]}],"id":[{"id":"10.13039\/501100011645","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 5\u2010year\u2010old female diagnosed with severe hemophilia B began experiencing frequent muscular and joint bleeds at 19\u00a0months old. Molecular studies, including Sanger sequencing, Giemsa banding, human androgen receptor (HUMARA) assay, array\u2010based comparative genomic hybridization (aCGH), whole\u2010exome sequencing (WES), and multiplex ligation\u2010dependent probe amplification (MLPA), revealed a heterozygous factor IX (F9) intron 3 substitution (c.277+1G&gt;T) inherited from her mother and a de novo heterozygous 441\u00a0kb deletion in the Xq28 region, which flanked intron 22 homologous regions 1 (int22h1) and 2 (int22h2). This rare genetic profile explains her severe phenotype and guides hereditary consultation for family planning.<\/jats:p>","DOI":"10.1002\/pbc.31332","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T05:10:36Z","timestamp":1726636236000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A de novo int22h\u20101\/int22h\u20102\u2010flanked Xq28 deletion\u2010associated preferential X\u2010inactivation in a female with severe hemophilia B"],"prefix":"10.1002","volume":"71","author":[{"given":"Wan\u2010Chun","family":"Chen","sequence":"first","affiliation":[{"name":"School of Medicine, College of Medicine Kaohsiung Medical University Kaohsiung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsiao\u2010Jung","family":"Kao","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences Academia 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