Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2 , encoding Runt DNA-binding domain pro...

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Veröffentlicht in:	European journal of medical genetics 2017-03, Vol.60 (3), p.163-168
Hauptverfasser:	Bir, Firdevs Dinçsoy, Dinçkan, Nuriye, Güven, Yeliz, Baş, Firdevs, Altunoğlu, Umut, Kuvvetli, Senem S, Poyrazoğlu, Şükran, Toksoy, Güven, Kayserili, Hülya, Oya Uyguner, Z
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Body Height - genetics Bone Density - genetics Child Child, Preschool Clavicle - pathology Cleidocranial dysplasia Cleidocranial Dysplasia - genetics Cleidocranial Dysplasia - pathology Core Binding Factor Alpha 1 Subunit - genetics Dental abnormalities Facies Female Growth Disorders - genetics Humans Male Malocclusion - genetics Medical Education Middle Aged Osteoporosis Osteoporosis - complications Osteoporosis - genetics RUNX2 Underdeveloped clavicles
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