{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:03:50Z","timestamp":1753869830541,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T00:00:00Z","timestamp":1528761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Bumsuk Academic Research Fund"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 10\u2010year\u2010old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated von Willebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compound heterozygote for vWD: c.2574C\u00a0&gt;\u00a0G (p.Cys858Trp) from his father (known variant of vWD type 1) and c.3390C\u00a0&gt;\u00a0T (p.Pro1127_Gly1180delinsArg) from his mother (variant known to result in exon 26 skipping in vWD type 2A). He was managed with factor VIII and von Willebrand factor complex concentrate during palatoplasty due to bleeding despite pre\u2010operative desmopressin injection. The operation was completed successfully.<\/jats:p>","DOI":"10.1002\/pbc.27279","type":"journal-article","created":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T12:13:43Z","timestamp":1528805623000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-3493","authenticated-orcid":false,"given":"Ye Jee","family":"Shim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keimyung University School of Medicine and Dongsan Medical Center  Daegu Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"So Yun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keimyung University School of Medicine and Dongsan Medical Center  Daegu Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nani","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keimyung University School of Medicine and Dongsan Medical Center  Daegu Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heung Sik","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keimyung University School of Medicine and Dongsan Medical Center  Daegu Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung\u2010Sook","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Keimyung University School of Medicine and Dongsan Medical Center  Daegu Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ja\u2010Hyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Green Cross Genome  Yongin Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1601561"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V69.2.454.454"},{"key":"e_1_2_7_4_1","first-page":"1261","article-title":"Diagnosis and management of von Willebrand disease: guidelines for primary care","volume":"80","author":"Yawn B","year":"2009","journal-title":"Am Fam Physician"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000003038"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12503"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2010.03975.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.18176\/jiaci.0151"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000368657"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12226"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3343\/kjlm.2007.27.3.169"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12093"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12280"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-06-2072"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01219.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-551960"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.5505\/tjh.2012.39205"}],"container-title":["Pediatric Blood &amp; 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