Abnormal collagen in ataxia telangiectasia

E. W. McReynolds, M. K. Dabbous, A. S. Hanissian, D. Duenas and R. Kimbrell

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.