{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T07:13:15Z","timestamp":1696921995520},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T00:00:00Z","timestamp":1319760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiskott\u2013Aldrich syndrome (WAS) and X\u2010linked thrombocytopenia (XLT) are caused by a mutation in the <jats:italic>WAS<\/jats:italic> gene on Xp11.22. We report two patients with IVS6+5G&gt;A of <jats:italic>WAS<\/jats:italic> in a Korean family. The proband presented with classic WAS, whereas his maternal cousin had symptoms limited to XLT. Their mothers were proved to be carriers. The IVS6+5G&gt;A mutation was reported to result in incomplete splicing of the donor site and typically associated with mild form of disease, XLT. Our observation of the intrafamilial variability of clinical manifestations of WAS further expands the genotype\u2013phenotype correlations and suggests the presence of modifying genetic factors. Pediatr Blood Cancer 2012; 58: 297\u2013299. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/pbc.23377","type":"journal-article","created":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T20:07:34Z","timestamp":1319832454000},"page":"297-299","source":"Crossref","is-referenced-by-count":3,"title":["IVS6+5G&gt;A found in Wiskott\u2013Aldrich syndrome and X\u2010linked thrombocytopenia in a Korean family"],"prefix":"10.1002","volume":"58","author":[{"given":"Seong\u2010Ho","family":"Yoon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taeshik","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee\u2010Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun\u2010Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong\u2010Hee","family":"Ko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hey\u2010Sung","family":"Baek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun\u2010Ju","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chul\u2010Hoon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,10,28]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.10.007"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2010.11.013"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-008-8084-3"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2010.00996.x"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri2724"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1592"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026416017763"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-008-8069-2"},{"key":"e_1_2_5_10_2","first-page":"114","article-title":"Outcome of children with X\u2010linked thrombocytopenia (XLT) mild Wiskott\u2013Aldrich syndrome diagnosed below the age of 2 years (analysis from the CEREDIH Network)","volume":"154","author":"Pellier I","year":"2008","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e32834114bc"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-239087"},{"key":"e_1_2_5_13_2","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood.V90.7.2680","article-title":"Wiskott\u2013Aldrich syndrome\/X\u2010linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype","volume":"90","author":"Zhu QL","year":"1997","journal-title":"Blood"},{"key":"e_1_2_5_14_2","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1055\/s-0038-1650318","article-title":"Mutation spectrum in patients with Wiskott\u2013Aldrich syndrome and X\u2010linked thrombocytopenia: Identification of twelve different mutations in the WASP gene","volume":"75","author":"Schwartz M","year":"1996","journal-title":"Thromb Haemostasis"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1228"},{"key":"e_1_2_5_16_2","first-page":"79","article-title":"Mutations of the WASP gene in 10 Japanese patients with Wiskott\u2013Aldrich syndrome and X\u2010linked thrombocytopenia","volume":"71","author":"Itoh S","year":"2000","journal-title":"Int J Hematol"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.6.2268"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1480"},{"key":"e_1_2_5_19_2","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood.V90.7.2680","article-title":"Wiskott\u2013Aldrich syndrome\/X\u2010linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype","volume":"90","author":"Zhu Q","year":"1997","journal-title":"Blood"}],"container-title":["Pediatric Blood &amp; 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