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Abnormal collagen in ataxia telangiectasia
American Journal of Diseases of Children (1960)
|March 1, 1976
Summary
Ataxia telangiectasia may stem from a primary defect in tissue differentiation. Abnormal collagen found in the skin of affected siblings supports this hypothesis, suggesting a potential new avenue for understanding the disease.
Area of Science:
- Genetics
- Cell Biology
- Dermatology
Background:
- Ataxia telangiectasia presents with diverse abnormalities across multiple organ systems, including skin, immune, neurological, and endocrine functions.
- Existing research points to a potential primary defect in tissue differentiation as a causative factor for ataxia telangiectasia.