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.