Metatropic dwarfism

Known as: Metatropic Dysplasia, dysplasia metatropic, metatrophic dysplasia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1968-2016
012319682016

Papers overview

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2011
2011
TRPV4 is a mechanically activated Ca(2+)-passing channel implicated in the sensing of forces, including those acting on bones. To… (More)
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2010
2010
Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This… (More)
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2010
2010
BACKGROUND Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a… (More)
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2010
2010
Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with… (More)
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Highly Cited
2009
Highly Cited
2009
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae… (More)
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1995
1995
We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal… (More)
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1987
1987
Metatropic dwarfism is a rare heritable skeletal dysplasia that is thought to result from a defect in endochondral ossification… (More)
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1985
1985
Two infants with clinical and radiologic features of metatropic dwarfism presented in the neonatal period with episodes of… (More)
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1978
1978
The clinical and radiological manifestations of a lethal case of metatropic dwarfism are presented. Two radiological signs… (More)
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1976
1976
Two brothers are described with identical features of short-limbed dwarfism, normal face, hands and feet, respiratory… (More)
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