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FRONTOMETAPHYSEAL DYSPLASIA 2

Known as: FMD2 
 
National Institutes of Health

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Related topics

19 relations
Aortic root dilationAutosomal dominant inheritanceBicuspid aortic valveClinodactyly of the 5th finger
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Papers overview

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2020
2020
Pediatric genetics: rare is common
One of themost promising applications of genomic diagnostics has been to pediatric genetics. Early-onset and/or extreme disease… Expand
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2020
2020
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
The transforming growth factor-β-activated kinase 1 (TAK1) encoded by mitogen-activated protein kinase kinase kinase 7 (MAP3K7… Expand
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2018
2018
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.
Frontometaphyseal dysplasia 2 (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the… Expand
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2016
2016
Nitric oxide signaling and its role in oxidative stress response in Schizosaccharomyces pombe.
In the fission yeast Schizosaccharomyces pombe, we found that the putative NO dioxygenase SPAC869.02c (named Yhb1) and the S… Expand
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2010
2010
Transient endothelial dysfunction following flow-mediated dilation assessment
Flow-mediated dilation (FMD) is a widely used tool to investigate endothelial function. However, FMD assessment may cause… Expand
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