A New Compound Heterozygous Frameshift Mutation in the Type II 3 Beta-Hydroxysteroid Dehydrogenase Gene Causes Salt-Wasting 3 Beta-HSD Deficiency Congenital Adrenal Hyperplasia
January 1996
in “
The Journal of Clinical Endocrinology & Metabolism
”
Studysummary This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
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