{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:13Z","timestamp":1772160073729,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Schaaf\u2010Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay\/intellectual disability. Although it shares some common features with Prader\u2010Willi Syndrome, joint contractures, and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the\n                    <jats:italic>MAGEL2<\/jats:italic>\n                    gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the\n                    <jats:italic>MAGEL2<\/jats:italic>\n                    gene, one paternally inherited and one de novo. One patient had obesity, brachydactyly and dysmorphic features, and the other patient presented with contractures, severe hypotonia and early death. This is the first report of Turkish SHFYNG syndrome cases presented to emphasize the phenotypic diversity of the syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14320","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T03:00:24Z","timestamp":1677466824000},"page":"127-132","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Two new cases with novel pathogenic variants reflecting the clinical diversity of\n                    <scp>Schaaf\u2010Yang<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7327-3849","authenticated-orcid":false,"given":"Ceren","family":"Alavanda","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Marmara University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Arslan Ate\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul University\u2010Cerrahpa\u015fa, Cerrahpa\u015fa Faculty of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Yava\u015f Abal\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, School of Medicine Marmara University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilgen Bilge","family":"Ge\u00e7kinli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Marmara University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serap","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, School of Medicine Marmara University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Arman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Marmara University  Istanbul 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