Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

@article{Eyre1986NonexpressionOC,
  title={Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.},
  author={David R Eyre and Melissa P. Upton and F. B. Shapiro and R. H. Wilkinson and Gordon F Vawter},
  journal={American journal of human genetics},
  year={1986},
  volume={39 1},
  pages={52-67}
}
A lethal short-limbed dwarfism was diagnosed at autopsy as the Langer-Saldino variant of achondrogenesis by radiological, histological, and gross pathological criteria. Cartilage was obtained for biochemical and ultrastructural analyses from the ends of long bones, from ribs and from a scapula of the newborn infant. At all sites, it had an abnormal gelatinous texture and translucent appearance. Biochemical analyses of the cartilages to identify pepsin-solubilized collagen alpha-chains and… CONTINUE READING
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