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Article

A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.

Acta paediatrica (Oslo, Norway : 1992) - 1 Oct 2000

Tsai F J, Wu J Y, Lin W D, Tsai C H

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Share to Abnormalities, Multiple
Share to Cleidocranial Dysplasia
Share to DNA-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11083386
DOI: 10.1080/080352500750027673

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Related research

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Research trail→

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A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.PMID 11083386Read ↗

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.Semantic proximity Read ↗

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial DysplasiaSemantic proximity Read ↗

Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone DevelopmentSemantic proximity Read ↗

Cleidocranial dysplasia: clinical and molecular geneticsSemantic proximity Read ↗

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.Semantic proximity Read ↗

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.Semantic proximity Read ↗

Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.Semantic proximity Read ↗

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.Semantic proximity Read ↗

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.Semantic proximity Read ↗

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasiaSemantic proximity Read ↗

A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.Semantic proximity Read ↗

New Genetic Variants of RUNX2 in Mexican Families Causes Cleidocranial DysplasiaSemantic proximity Read ↗

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