Results 61 to 70 of about 65,546 (106)

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia‐Like Phenotype

Human Mutation, Volume 2026, Issue 1, 2026.
Cleidocranial dysplasia (CCD) is a genetic disorder characterized by delayed cranial suture closure, hypoplastic clavicles, and dental anomalies, with varying severity. Most cases are linked to RUNX2 variants; however, rare CCD‐like phenotypes can arise from other genetic alterations, including variants in MSX2, a critical skeletal development gene ...
Mamiko Yamada, Mark Cleghorn, Prabhakara Krishnamurthy, Tegan French, David Francis, Kenjiro Kosaki, Tiong Yang Tan, Baisakhi Banerjee   +7 more
wiley   +1 more source

Multidisciplinary management of cleidocranial dysplasia [PDF]

, 2015
Background: Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or osteodental dysplasia, is an autosomal dominant disorder caused by a microdeletion defect in chromosome 6p21.
Chalala, Chimène, Noujeim, Ziad E.F., Saade, Antoine, Abou-Chebel, Naji   +3 more
core   +1 more source

Severe cleidocranial dysplasia can mimic hypophosphatasia

, 2002
Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene.
Mornet, Etienne, Mundlos, Stefan, Blaser, Susan, Cole, David E., Unger, Sheila   +4 more
core   +1 more source

High Expression of IGSF10 Confers an Inhibitory Effect on the Progression of Lung Adenocarcinoma

Journal of Cellular and Molecular Medicine, Volume 29, Issue 24, December 2025.
ABSTRACT Lung cancer is one of the most frequently diagnosed cancers and the leading cause of cancer‐related deaths worldwide. Unlike conventional treatments, the targeted therapies or emerging immunotherapies have shown significant advantages in the management of advanced lung cancer.
Lianyu Cheng, Beibei Ma, Yun Zhao, Chunyan Qin, Lihe Jiang, Bo Ling   +5 more
wiley   +1 more source

Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern [PDF]

, 2015
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial ...
Bhargava, S, Khan, S, Bhargava, P, Sharma, R   +3 more
core  

Clinical and genetic study on a cleidocranial dysplasia family [PDF]

Kouqiang yixue
Objective To confirm the mutation in a family with cleidocranial dysplasia (CCD) and explore its possible effects on protein structure and function.
ZHANG Xinyu, MAO Ji, CHENG Tingting, MA Lan, CHENG Liming, PAN Yongchu
doaj   +1 more source

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature

Orphanet Journal of Rare Diseases, 2018
Objectives To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the surgical-orthodontic treatment ...
Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu, Min Zhu   +6 more
doaj   +1 more source

An insight into the malocclusion of cleidocranial dysplasia [PDF]

, 2012
Cleidocranial dysplasia (CCD), formerly known as Cleidocranial dysostosis,is a rare congenital disorder of bone that is characterised by aplasia of, or deficient, clavicular formation, delayed and imperfect ossification of the cranium, relatively short ...
Dawjee, Salahuddien M., Van Zyl, Andre W., Nel, W.R.   +2 more
core   +1 more source

Orthodontic and surgical management of cleidocranial dysplasia

, 2013
Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation.
Vargervik, Karin, Oberoi, Snehlata
core   +1 more source

Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report

Head & Face Medicine, 2011
Our aim was to discuss, by presenting a case, the possibilities connected to the use of a CBCT exam in the dental evaluation of patients with Cleidocranial Dysplasia (CCD), an autosomal dominant skeletal dysplasia with delayed exfoliation of deciduous ...
Zotti Francesca, Tonni Ingrid, Laffranchi Laura, Dalessandri Domenico, Piancino Maria, Paganelli Corrado, Bracco Pietro   +6 more
doaj   +1 more source