{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T10:39:12Z","timestamp":1791110352308,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,2,9]],"date-time":"2010-02-09T00:00:00Z","timestamp":1265673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Williams\u2010Beuren syndrome (WBS) is a neurodevelopmental disorder presenting with an elfin\u2010like face, supravalvular aortic stenosis, a specific cognitive\u2010behavioral profile, and infantile hypercalcemia. We encountered two WBS patients presenting with infantile spasms, which is extremely rare in WBS. Array comparative genomic hybridization (aCGH) and fluorescent in situ hybridization (FISH) analyses revealed atypical 5.7\u2010Mb and 4.1\u2010Mb deletions at 7q11.23 in the two patients, including the WBS critical region and expanding into the proximal side and the telomeric side, respectively. On the proximal side,\n                    <jats:italic>AUTS2<\/jats:italic>\n                    and\n                    <jats:italic>CALN1<\/jats:italic>\n                    may contribute to the phenotype. On the telomeric side, there are two candidate genes\n                    <jats:italic>HIP1<\/jats:italic>\n                    and\n                    <jats:italic>YWHAG<\/jats:italic>\n                    . Because detailed information of them was unavailable, we investigated their functions using gene knockdowns of zebrafish. When zebrafish\n                    <jats:italic>ywhag1<\/jats:italic>\n                    was knocked down, reduced brain size and increased diameter of the heart tube were observed, indicating that the infantile spasms and cardiomegaly seen in the patient with the telomeric deletion may be derived from haploinsufficiency of\n                    <jats:italic>YWHAG<\/jats:italic>\n                    . genesis 48:233\u2013243, 2010. \u00a9 2010 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/dvg.20607","type":"journal-article","created":{"date-parts":[[2010,2,9]],"date-time":"2010-02-09T13:31:28Z","timestamp":1265722288000},"page":"233-243","source":"Crossref","is-referenced-by-count":39,"title":["Zebrafish gene knockdowns imply roles for human\n                    <i>YWHAG<\/i>\n                    in infantile spasms and cardiomegaly"],"prefix":"10.1002","volume":"48","author":[{"given":"Yuta","family":"Komoike","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsunori","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Hiraki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Hayashidani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Nishizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouji","family":"Higashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumi","family":"Yasukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Osawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Kohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Higashinakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/104454999315105"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2006.10.007"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2008.06563.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044537"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-11"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0166-z"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0284-0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030302"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30260"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.001"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105971200"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/375166"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31012"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050064"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.34703.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"59","DOI":"10.56021\/9780801882128","volume-title":"Williams\u2010Beuren 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