TY - JOUR
T1 - Cleidocranial dysplasia. A molecular and clinical review
AU - Avendato, Andrea
AU - Cammarata-Scalisi, Francisco
AU - Rizal, Mochamad Fahlevi
AU - Budiardjo, Sarworini B
AU - Soetopo, Margaretha Suharsini
AU - Fauziah, Eva
AU - Grande, Nicola Maria
AU - Fortunato, Leonzi
AU - Plotino, Gianluca
AU - Yavuz, Izzet
AU - Callea, Michelle
PY - 2018/2
Y1 - 2018/2
N2 - Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder
characterized by skeletal and dental abnormalities primarily, short
stature, aplasia or hypoplasia of clavicles, open fontanelles and
supernumerary teeth. Heterozygous mutations of the runt-related
transcription factor 2 (RUNX2) gene have been found in approximately
60-70% of cases, leaving a large number of cases with no defined
genetic cause which led us to delve into molecular mechanisms
underlying CCD and thus to detect potential target genes to be
explored in these patients. In this review, we also highlight very
broadly the phenotypic characteristics of previously reported patients
with CCD.
AB - Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder
characterized by skeletal and dental abnormalities primarily, short
stature, aplasia or hypoplasia of clavicles, open fontanelles and
supernumerary teeth. Heterozygous mutations of the runt-related
transcription factor 2 (RUNX2) gene have been found in approximately
60-70% of cases, leaving a large number of cases with no defined
genetic cause which led us to delve into molecular mechanisms
underlying CCD and thus to detect potential target genes to be
explored in these patients. In this review, we also highlight very
broadly the phenotypic characteristics of previously reported patients
with CCD.
KW - Cleidocranial dysplasia
KW - RUNX2 gene
KW - supernumerary teeth
M3 - Article
SN - 2146-1767
VL - 8
SP - 1
EP - 4
JO - International Dental Research
JF - International Dental Research
IS - 1
ER -