(Q52597502)

4 May 2018

title

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. (English)

1 reference

4 May 2018

main subject

hypophosphatasia

0 references

cleidocranial dysplasia

1 reference

6

David L Rimoin

1 reference

4 May 2018

Ralph S. Lachman

3

object named as

Ralph S Lachman

1 reference

4 May 2018

author name string

Areeg H El-Gharbawy

1

1 reference

4 May 2018

Joseph N Peeden

2

1 reference

4 May 2018

John M Graham

4

1 reference

4 May 2018

Stephen R Moore

5

1 reference

4 May 2018

language of work or name

English

0 references

publication date

1 January 2010

1 reference

4 May 2018

American Journal of Medical Genetics

published in

1 reference

4 May 2018

volume

152A

1 reference

4 May 2018

issue

1

1 reference

4 May 2018

page(s)

169-174

1 reference

4 May 2018

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Dysregulation of chondrogenesis in human cleidocranial dysplasia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Smad function and intranuclear targeting share a Runx2 motif required for osteogenic lineage induction and BMP2 responsive transcription.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Subnuclear targeting of Runx/Cbfa/AML factors is essential for tissue-specific differentiation during embryonic development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Cleidocranial dysplasia: clinical and molecular genetics

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Severe cleidocranial dysplasia can mimic hypophosphatasia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

A natural history of cleidocranial dysplasia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799546

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20014132

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intrafamilial variability in cleidocranial dysplasia: a three generation family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20014132

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33146

1 reference

4 May 2018

PMCID

2799546

1 reference

4 May 2018

PubMed ID

20014132

1 reference

4 May 2018