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Am J Dis Child ; 130(3): 305-7, 1976 Mar.
Article in English | MEDLINE | ID: mdl-1258840

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.


Subject(s)
Ataxia Telangiectasia/etiology , Collagen Diseases/complications , Collagen/analysis , Amino Acids/analysis , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/genetics , Female , Humans , Hydroxylysine/deficiency , Immunologic Deficiency Syndromes/etiology , Skin/analysis
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