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  • Title: Prenatal diagnosis of congenital adrenal hyperplasia.
    Author: Marcus ES, Holcombe JH, Tulchinsky D, Rich RR, Riccardi VM.
    Journal: Am J Med Genet; 1979; 4(2):201-4. PubMed ID: 517576.
    Abstract:
    The accurate prenatal diagnosis of 21-beta-hydroxylase deficiency, based on amniotic fluid levels of 17-hydroxyprogesterone, is documented for a fetus 14 1/2 weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21-beta-hydroxylase.
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