Syndrome present from birth characterised by failure to thrive, repeated infections, diarrhoea, growth deficiency, short limbs, and small thorax. Also Redundant skin, erythema, dyskeratosis, hair loss. Aetiology unknown. Possibly, autosomal recessive inheritance.
- V. A. McKusick, H. E. Cross:
Ataxia-telangiectasia and Swiss-type agammaglobulinemia: two genetic disorders of the immune mechanism in related Amish.
Journal of the American Medical Association, Chicago, 1966, 195: 739-745.
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