Abnormal Collagen in Ataxia Telangiectasia

Abstract
• Ataxia telangiectasia has been associated with varying clinical and laboratory abnormalities of the cutaneous, immune, neurological, and endocrine systems. Recently, a primary defect in tissue differentiation has been proposed as a probable cause of the disease. The presence of biochemically abnormal collagen in the skin of two siblings with the disease may further support this hypothesis. (Am J Dis Child 130:305-307, 1976)

This publication has 0 references indexed in Scilit: