{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:02:52Z","timestamp":1792612972380,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T00:00:00Z","timestamp":1681084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi\u2010allelic variants in one of the genes involved in the Notch signaling pathway that tunes the \u201csegmentation clock\u201d of somitogenesis:\n                    <jats:italic>DLL3<\/jats:italic>\n                    ,\n                    <jats:italic>HES7<\/jats:italic>\n                    ,\n                    <jats:italic>LFNG<\/jats:italic>\n                    ,\n                    <jats:italic>MESP2<\/jats:italic>\n                    ,\n                    <jats:italic>RIPPLY2<\/jats:italic>\n                    , and\n                    <jats:italic>TBX6<\/jats:italic>\n                    . To date, seven individuals with\n                    <jats:italic>LFNG<\/jats:italic>\n                    variants have been reported in the literature. In this study we describe two newborns and one fetus with SCD, who were found by trio\u2010based exome sequencing (trio\u2010ES) to carry homozygous (c.822\u20105C&gt;T) or compound heterozygous (c.[863dup];[1063G&gt;A]) and (c.[521G&gt;T];[890T&gt;G]) variants in\n                    <jats:italic>LFNG.<\/jats:italic>\n                    Notably, the c.822\u20105C&gt;T change, affecting the polypyrimidine tract of intron 5, is the first non\u2010coding variant reported in\n                    <jats:italic>LFNG<\/jats:italic>\n                    . This study further refines the clinical and molecular features of spondylocostal dysostosis 3 and adds to the numerous investigations supporting the usefulness of trio\u2010ES approach in prenatal and neonatal settings.\n                  <\/jats:p>","DOI":"10.1111\/cge.14336","type":"journal-article","created":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T23:14:56Z","timestamp":1681168496000},"page":"230-237","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of bi\u2010allelic\n                    <i>LFNG<\/i>\n                    variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3"],"prefix":"10.1111","volume":"104","author":[{"given":"Mauro","family":"Lecca","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Molecular Medicine University of Pavia  Pavia 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