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Kniest dysplasia

Known as: Kniest Chondrodystrophy, Kniest Syndrome, Swiss Cheese Cartilage Dysplasia 
A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and… Expand
National Institutes of Health

Papers overview

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Highly Cited
2005
Highly Cited
2005
Heterozygous mutations of COL2A1 create several clinical entities collectively termed type II collagenopathies. These disorders… Expand
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Review
2005
Review
2005
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… Expand
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1999
1999
Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface… Expand
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1998
1998
Type II collagen mutations have been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical… Expand
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1997
1997
Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen. We report about Dr. Kniest… Expand
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1995
1995
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… Expand
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1995
1995
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… Expand
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1993
1993
Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in… Expand
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1988
1988
Epiphyseal and growth plate cartilages from four cases of Kniest dysplasia have been studied. In each case collagen fibril… Expand
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1985
1985
Serial roentgencephalograms of a male patient with Kniest dysplasia were obtained between 1 7/12 and 11 3/12 years of age and… Expand
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