Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family

A Impellizzeri, G Midulla, U Romeo… - … Journal of Dentistry, 2018 - Wiley Online Library
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in
the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by …

[HTML][HTML] Cleidocranial dysplasia spectrum disorder

K Machol, R Mendoza-Londono, B Lee - 2017 - europepmc.org
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a
clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures …

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

CE Ott, G Leschik, F Trotier, L Brueton… - Human …, 2010 - Wiley Online Library
Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by
hypoplastic or absent clavicles, increased head circumference, large fontanels, dental …

[HTML][HTML] Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Q Li, J Chen, P Faux, ME Delgado, B Bonfante… - Communications …, 2023 - nature.com
We report a genome-wide association study of facial features in> 6000 Latin Americans
based on automatic landmarking of 2D portraits and testing for association with inter …

RUNX2 analysis of Danish cleidocranial dysplasia families

L Hansen, AK Riis, A Silahtaroglu, H Hove… - Clinical …, 2011 - Wiley Online Library
Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S. RUNX2
analysis of Danish cleidocranial dysplasia families. Cleidocranial dysplasia (CCD) is an …

[HTML][HTML] Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report

BS Shakuntala, S Mathew, NH Krishnamurthy… - Journal of medical case …, 2012 - Springer
Introduction Cleidocranial dysplasia is a rare congenital defect of autosomal dominant
inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short …

Cleidocranial dysplasia: report of six clinical cases

RB Martins, RS de Souza… - Special Care in Dentistry, 2014 - Wiley Online Library
Cleidocranial dysplasia (CCD) is an autosomal‐dominant disorder that occurs due to
mutations in the Cbfa 1 gene, also called Runx 2, located on the short arm of chromosome 6 …

[HTML][HTML] Identification of RUNX2 variants associated with cleidocranial dysplasia

X Gao, K Li, Y Fan, Y Sun, X Luo, L Wang, H Liu… - Hereditas, 2019 - Springer
Background Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly
characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple …

A complex chromosome rearrangement, der (6) ins (6)(p21. 1q25. 3q27) inv (6)(p25. 3q27), in a child with cleidocranial dysplasia

JK Northup, R Matalon, LH Lockhart… - European Journal of …, 2011 - Elsevier
Complex chromosome rearrangements (CCRs) are structural abnormalities involving> 2
chromosomes or> 3 breakpoints. It has been suggested that the probability of imbalance …

[HTML][HTML] An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation

D Liu, Y Liu, XL Zhang, Y Wang, C Zhang… - Frontiers in …, 2021 - frontiersin.org
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder
characterized by cranial dysplasia, clavicle hypoplasia, and dental abnormalities. Mutations …