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Am J Med Genet. 1982 Sep;13(1):39-49.

Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.

Abstract

We report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.

PMID:
6127950
[PubMed - indexed for MEDLINE]
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