{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:25:52Z","timestamp":1777728352263,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T00:00:00Z","timestamp":1563148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100015798","name":"Suzhou Key Medical Center","doi-asserted-by":"crossref","award":["SZZX201505"],"award-info":[{"award-number":["SZZX201505"]}],"id":[{"id":"10.13039\/100015798","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Jiangsu Maternal and Children health care research project","award":["F201603"],"award-info":[{"award-number":["F201603"]}]},{"name":"Jiangsu Provincial Medical Innovation Team","award":["CXTDB2017013"],"award-info":[{"award-number":["CXTDB2017013"]}]},{"name":"Suzhou Introduced Project of Clinical Medical Expert Team","award":["SZYJTD201708"],"award-info":[{"award-number":["SZYJTD201708"]}]},{"DOI":"10.13039\/501100010854","name":"Jiangsu Provincial commission of health and family planning","doi-asserted-by":"crossref","award":["H2017073"],"award-info":[{"award-number":["H2017073"]}],"id":[{"id":"10.13039\/501100010854","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Jiangsu Maternal and Children health care key discipline","award":["FXK201748"],"award-info":[{"award-number":["FXK201748"]}]},{"name":"Suzhou Industry Technology Innovation Project","award":["SYS201770 and SYSD2018119"],"award-info":[{"award-number":["SYS201770 and SYSD2018119"]}]},{"name":"Jiangsu Province Association of Maternal and Child Health Project","award":["FYX201603"],"award-info":[{"award-number":["FYX201603"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To diagnose and explore the genetic aetiology of Simpson\u2013Golabi\u2013Behmel syndrome type 1 (SGBS1) in two male fetuses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Prenatal ultrasound scans and further genetic analysis using karyotype analysis, chromosomal microarray analysis, whole exome sequencing (WES) and Sanger sequencing were conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prenatal ultrasound scans of two fetuses showed multiple congenital anomalies and hydramnios. Subsequent to termination of the pregnancies, a novel nonsense variant (c.892G&gt;T, p.E298*) in the glypican 3 ( GPC3) gene of the two fetuses was identified by WES and further confirmed by Sanger sequencing. The two fetuses were diagnosed with SGBS1. The mother was heterozygous for the c.892G&gt;T variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study describes the prenatal sonographic features of SGBS1, emphasizes the role of WES in the diagnosis of SGBS1 and expands the known mutation spectrum of the GPC3 gene.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060519859752","type":"journal-article","created":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T06:26:15Z","timestamp":1563171975000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Whole exome sequencing aids the diagnosis of Simpson\u2013Golabi\u2013Behmel syndrome in two male fetuses"],"prefix":"10.1177","volume":"48","author":[{"given":"Jingjing","family":"Xiang","sequence":"first","affiliation":[{"name":"Centre for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu Province, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu Province, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Song","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu Province, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu Province, 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