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Hypochondrogenesis

National Institutes of Health

Papers overview

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Review
2016
Review
2016
Mutations in the COL2A1 gene cause a spectrum of rare autosomal‐dominant conditions characterized by skeletal dysplasia, short… 
Review
2005
Review
2005
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… 
2004
2004
SummaryThe expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals… 
Highly Cited
2000
Highly Cited
2000
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… 
1996
1996
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single… 
1995
1995
Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and… 
1995
1995
The type II collagenopathies form a continuous spectrum of clinical severity, ranging from lethal achondrogenesis type II and… 
1988
1988
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special… 
Review
1986
Review
1986
Recently hypochondrogenesis was described as a form of neonatally lethal dwarfism said to resemble spondyloepiphyseal dysplasia…