• 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)
Edward W. McReynolds, Mustafa K. Dabbous, Aram S. Hanissian, Danilo Duenas, Robert Kimbrell. Abnormal Collagen in Ataxia Telangiectasia. Am J Dis Child. 1976;130(3):305–307. doi:10.1001/archpedi.1976.02120040083016