{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T18:00:03Z","timestamp":1778868003520,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T00:00:00Z","timestamp":1739923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in\n                    <jats:italic>CDK13<\/jats:italic>\n                    and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as\n                    <jats:italic>CDK13<\/jats:italic>\n                    \u2010related disorder, and since then other reports have provided further clinical and molecular information. Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with\n                    <jats:italic>CDK13<\/jats:italic>\n                    variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e.g., cranio\u2010cervical anomalies). We also focused on the ocular phenotype that appears to include bilateral congenital glaucoma, posterior embriotoxon, buphthalmos and Duane anomaly. Finally, we observed two cases of mother\u2010to\u2010daughter transmission. Our work clarifies some novel features of CHDFIDD, defines the differential diagnosis of this disorder, and provides recommendations for its clinical management.\n                  <\/jats:p>","DOI":"10.1111\/cge.14726","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T22:35:41Z","timestamp":1740004541000},"page":"146-155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>CDK13<\/i>\n                    \u2010Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management"],"prefix":"10.1111","volume":"108","author":[{"given":"Gianluca","family":"Contr\u00f2","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Azienda USL\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Chiara","family":"Baroni","sequence":"additional","affiliation":[{"name":"Medical 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