{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:46Z","timestamp":1786976806810,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Loss or decrease of function in runt\u2010related transcription factor 2 encoded by\n                    <jats:italic>RUNX2<\/jats:italic>\n                    is known to cause a rare autosomal\u2010dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one\u2010half of the subjects, wormian bone (51%), short stature (43%), bell\u2010shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of\n                    <jats:italic>RUNX2<\/jats:italic>\n                    revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423\u2009+\u20092delT, c.443_454delTACCAGATGGGAinsG, c.505C\u2009&gt;\u2009T, c.594_595delCTinsG, c.636_637insC, c.685\u2009+\u20095G\u2009&gt;\u2009A, c.1088G\u2009&gt;\u2009T, c.1281delC, Exon 6\u20139 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1\u2010driven long isoform of\n                    <jats:italic>RUNX2<\/jats:italic>\n                    , which is expected to disrupt the N\u2010terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra\u2010familial genotype\u2013phenotype correlation in our CCD cohort.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62261","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T21:45:08Z","timestamp":1620942308000},"page":"2488-2495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey"],"prefix":"10.1002","volume":"185","author":[{"given":"Ezgi Gizem","family":"Berkay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Elkanova","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011fba","family":"Kalayc\u0131","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine Istanbul Medical Faculty, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altuno\u011flu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"},{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  Istanbul 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University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015e\u00fckr\u00fc","family":"\u00d6zt\u00fcrk","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine Istanbul Medical Faculty, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015e\u00fckr\u00fc","family":"Paland\u00fcz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine Istanbul Medical Faculty, Istanbul University  Istanbul 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