Associated Papers
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Concolino P et al.
Molecular Diagnosis & Therapy, 2021
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Concolino P
Molecular Biology Reports, 2020
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
27966633 (PubMed )
Supplement: srep39082-s1.pdf
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Haider S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
Barbaro M et al.
Clinical Endocrinology, 2012
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.
Nordenskjöld A 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
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