{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T05:15:18Z","timestamp":1789535718317,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"vor","delay-in-days":110,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>WAS<\/jats:italic>\n                      gene mutational analysis is crucial to establish a definite diagnosis of Wiskott\u2013Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We recruited 97 male, unrelated patients with WAS and analyzed\n                      <jats:italic>WAS<\/jats:italic>\n                      gene mutation using Sanger sequencing technology.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non\u2010stop mutations. Most mutations appear only once, with the exception of c.37C&gt;T (p.R13X) and c.374G&gt;A (p.G125E) each of which occurs twice in unrelated patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our data enrich the mutational spectrum of the\n                      <jats:italic>WAS<\/jats:italic>\n                      gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ped.15770","type":"journal-article","created":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T04:09:05Z","timestamp":1713586145000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Spectrum of\n                    <scp>\n                      <i>WAS<\/i>\n                    <\/scp>\n                    gene mutations in Vietnamese patients with\n                    <scp>Wiskott\u2013Aldrich<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"66","author":[{"given":"Ho Quoc","family":"Chuong","sequence":"first","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan Thi","family":"Xinh","sequence":"additional","affiliation":[{"name":"Department of Hematology, Faculty of Medicine University of Medicine and Pharmacy at Ho Chi Minh City  Ho Chi Minh City Vietnam"},{"name":"Ho Chi Minh City Blood Transfusion and Hematology Hospital  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duong Bich","family":"Tram","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Ho Chi Minh City Vietnam"},{"name":"Ho Chi Minh City Open University  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Thi Thanh","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Dai Phuoc Clinic  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan Minh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Hematology Children's Hospital 1  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan Nguyen Lien","family":"Anh","sequence":"additional","affiliation":[{"name":"Department of Hematology Children's Hospital 1  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Dinh","family":"Van","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology Children's Hospital 2  Ho Chi Minh City 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Anh","family":"Vu","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S213920"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1592"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aller.2015.11.002"},{"key":"e_1_2_8_5_1","volume-title":"Wiskott\u2010Aldrich Syndrome","author":"Malik MA","year":"2024"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.7416"},{"issue":"1","key":"e_1_2_8_7_1","first-page":"2","article-title":"The Wiskott\u2013Aldrich syndrome","volume":"120","author":"Thrasher AJ","year":"2000","journal-title":"Clin Exp 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