A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
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B. Rich | S. Pang | J. Mason | Y. Chang | K. Smillie | R. David | A. Howie | S. Myers | Weihua Wang | Goldy Carbunaru | K. J. Smillie | J. Mason