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Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.
American Journal of Human Genetics
|December 1, 1988
Summary
This study investigates a rare skeletal disorder, achondrogenesis-hypochondrogenesis, revealing intracellular retention of type II collagen in chondrocytes. This suggests a new dominant lethal disorder caused by abnormal type II collagen.
Area of Science:
- Skeletal Dysplasias
- Medical Genetics
- Cell Biology
Background:
- Achondrogenesis-hypochondrogenesis is a severe skeletal dysplasia.
- Previous cases have been described, but molecular mechanisms are not fully understood.