Add to ORKGCleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and super-numerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three-way translo-cati...
Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal...
Introduction: Cleido-cranial dysplasia (CCD) is a rare congenital disorder with an autosomal dominan...
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in th...
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia cha...
Cleidocranial dysplasia (CCD) is a congenital autosomal dominant syndrome characterised by dental an...
Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies s...
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal ...
Objective: Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified i...
Objective: Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified i...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by muta...
Cleidocranial dysplasia (CCD) is a rare disorder which is inherited as an autosomal genetic trait. I...
Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal d...
Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cau...
Abstract. Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disease caused...
Cleidocranial dysplasia (Dysostosis) is an autosomal dominant disease with a wide range of expressio...
Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal...
Introduction: Cleido-cranial dysplasia (CCD) is a rare congenital disorder with an autosomal dominan...
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in th...
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia cha...
Cleidocranial dysplasia (CCD) is a congenital autosomal dominant syndrome characterised by dental an...
Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies s...
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal ...
Objective: Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified i...
Objective: Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified i...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by muta...
Cleidocranial dysplasia (CCD) is a rare disorder which is inherited as an autosomal genetic trait. I...
Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal d...
Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cau...
Abstract. Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disease caused...
Cleidocranial dysplasia (Dysostosis) is an autosomal dominant disease with a wide range of expressio...
Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal...
Introduction: Cleido-cranial dysplasia (CCD) is a rare congenital disorder with an autosomal dominan...
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in th...