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