Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
American journal of medical genetics. Part A - 1 Aug 2021
Berkay Ezgi Gizem, Elkanova Leyla, Kalaycı Tuğba, Uludağ Alkaya Dilek, Altunoğlu Umut, Cefle Kıvanç, Mıhçı Ercan, Nur Banu, Taşdelen Elifcan, Bayramoğlu Zuhal, Karaman Volkan, Toksoy Güven, Güneş Nilay, Öztürk Şükrü, Palandüz Şükrü, Kayserili Hülya, Tüysüz Beyhan, Uyguner Zehra Oya
Abstract excerpt
Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant 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%),...
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