Associated Papers
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
Menassa R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Robins T et al.
Molecular Endocrinology (baltimore, Md.), 2006
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Pinto G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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