cleidocranial dysplasia/аргинин

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Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia.

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Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor, RUNX2. We performed mutation analysis of RUNX2 on four unrelated Chinese individuals with CCD. Three novel distinct mutations were

[Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia].

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OBJECTIVE To analyze the mutations of the RUNX2 gene in a family with cleidocranial dysplasia (CCD). METHODS The general health status of family members with CCD was investigated through propositus verification method. Oral specialized examination and radiological examination were performed. The

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

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Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.

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Mutations of the RUNX2 gene result in dominantly inherited cleidocranial dysplasia (CCD). RUNX2 encodes for an osteoblast-specific transcription factor, which recognizes specific DNA sequences by the runt domain. DNA binding is stabilized by the interaction with the protein CBFbeta, which induces

Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.

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Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disease caused by heterozygous mutations in an osteoblast-specific transcription factor, RUNX2. Mutational analyses of RUNX2 were done on 4 unrelated Chinese patients with CCD. One nonsense and 3 missense mutations were

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

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Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the RUNX2 gene. In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a translational stop at

Clinical spectrum of cleidocranial dysplasia in a family with twins.

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Cleidocranial dysplasia (CCD) is a rare congenital defect of autosomal dominant inheritance, primarily affecting bones that undergo intra-membranous ossification. Herein is reported the case of monozygotic male 13-year-old twins with typical features of this syndrome, such as large wide-open

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