{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:35:00Z","timestamp":1790948100146,"version":"4.1.0"},"reference-count":92,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2013\/11\/B\/NZ4\/03660"],"award-info":[{"award-number":["2013\/11\/B\/NZ4\/03660"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>\n                    Runt\u2010related transcription factor 2 (\n                    <jats:italic>RUNX2\/Cbfa1<\/jats:italic>\n                    ) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within\n                    <jats:italic>RUNX2<\/jats:italic>\n                    are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about\n                    <jats:italic>RUNX2<\/jats:italic>\n                    function, mutations and their phenotypic consequences in patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.12812","type":"journal-article","created":{"date-parts":[[2016,6,7]],"date-time":"2016-06-07T00:28:24Z","timestamp":1465259304000},"page":"393-402","source":"Crossref","is-referenced-by-count":86,"title":["Cleidocranial dysplasia and RUNX2\u2010clinical phenotype\u2013genotype correlation"],"prefix":"10.1111","volume":"90","author":[{"given":"A.","family":"Jaruga","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Medical University  Lublin Poland"},{"name":"Postgraduate School of Molecular Medicine  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Hordyjewska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Medical University  Lublin Poland"},{"name":"Postgraduate School of Molecular Medicine  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Kandzierski","sequence":"additional","affiliation":[{"name":"Children Orthopaedic and Rehabilitation Department Medical University of Lublin  Lublin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Tylzanowski","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Medical University  Lublin Poland"},{"name":"Laboratory for Developmental and Stem Cell Biology, Department of Development and Regeneration, Skeletal Biology and Engineering Research Centre University of Leuven  Leuven 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