Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination

In an attempt to improve detection of heterozygote carriers of the gene for congenital adrenal hyperplasia (21-hydroxylase deficiency; CAH) 64 families with at least 1 affected member (72 homozygotes and 191 clinically healthy subjects) were studied by HLA genotyping and by the single-dose corticotr...

Ausführliche Beschreibung