Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review

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Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review

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im August 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Identification of a novel muta ...... e report and literature review

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Identification of a novel muta ...... e report and literature review

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Identification of a novel muta ...... e report and literature review

@en

Identification of a novel muta ...... e report and literature review

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Identification of a novel muta ...... e report and literature review

@en

Identification of a novel muta ...... e report and literature review

@nl

P1476

Identification of a novel muta ...... e report and literature review

@en

P2093

Dan Ma

http://www.w3.org/2001/XMLSchema#string

Jun Guo

http://www.w3.org/2001/XMLSchema#string

Jun Zhang

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Tao Cai

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Xuxia Wang

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P275

Creative Commons Attribution-NonCommercial 4.0 License

P2860

AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone

Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure.

Cleidocranial dysplasia: clinical and molecular genetics.

Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta

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

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

P304

e11328

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P31

scholarly article

case report

review article

P356

10.1097/MD.0000000000011328

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P407

English

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P478

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P5008

ScienceSource

P577

2018-08-01T00:00:00Z

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P698

30095610

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P921

bone development disease

genetic variation

transcription factor

P932

6133463

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