Barry Rich to Adrenal Hyperplasia, Congenital
This is a "connection" page, showing publications Barry Rich has written about Adrenal Hyperplasia, Congenital.
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0.079
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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. J Clin Endocrinol Metab. 2002 Jun; 87(6):2556-63.
Score: 0.054
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Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun; 87(6):2611-22.
Score: 0.014
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Pubertal presentation of congenital delta 5-3 beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 1980 Aug; 51(2):345-53.
Score: 0.012