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  • Title: Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
    Author: Zachmann M, Prader A.
    Journal: Acta Endocrinol (Copenh); 1979 Nov; 92(3):542-6. PubMed ID: 517053.
    Abstract:
    In a previous publication, three relatives of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from two families were considered to be unusual heterozygotes rather than homozygotes with mild clinical manifestations. Their heterozygosity could now be confirmed by HLA tissue typing.
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