Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal
dysplasia with a prevalence of one per million births. The main causes of CCD are mutations …

Triplet repeat diseases (TRDs) refer to a group of diseases caused by three nucleotide
repeats elongated beyond a pathologic threshold. TRDs are divided into the following four …

Interventions: Whole exome sequencing (WES) of DNA samples was performed to identify
the disease-causing mutation, including the affected child and mother as well as the healthy …

Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and
clavicles, and is associated with the RUNX2 mutations. Although numerous patients have …

Background Cleidocranial dysplasia (CCD) is a genetic disorder with an autosomal
dominant inheritance pattern. CCD characterized by abnormal clavicles, patent sutures and …

Cleidocranial dysplasia (CCD), a dominantly inherited skeletal disease, is characterized by
a variable phenotype ranging from dental alterations to severe skeletal defects. Either de …

Los dientes supernumerarios son unidades dentales que numéricamente exceden la
cantidad de dientes normal, un fenómeno también conocida como hiperdontia, los dientes …

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing
hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD …

Cleidocranial dysplasia (CCD) is a rare genetic defect caused by a heterozygous mutation
of runt-related transcription factor 2 (RUNX2), which is important for osteoblast and skeletal …

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with facial, dental, and
skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental …