Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …

Runt‐related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling
skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 …

High-resolution melting analysis (HRMA) provides a valid approach to efficiently detect DNA
genetic and somatic mutations. In this study, HRMA was used for the screening of 116 …

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 …

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 …

Cleidocranial dysplasia (CCD) is an autosomal‐dominant disorder caused by a lack of
function of one or more alleles of the RUNX2 gene. Mutations of the RUNX2 gene were …

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

Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in
the NF2 gene and predisposing to the development of nervous system. Identification of …

Mosaicism, a state in which an individual has two or more genetically distinct populations of
cells in the body, can be difficult to detect because of either mild or atypical clinical …

Cleidocranial dysplasia also known as cleidocranial dysostosis, Marie-Sainton syndrome or
mutational dysostosis, is a genetic condition that primarily affects development of the bones …