Associated Papers
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
23337727 (PubMed )
Supplement: supp_jc.2012-3343_12-3343Tab1-3Fig1.pdf
Molecular diagnosis of two families with classic congenital adrenal hyperplasia.
Tian J et al.
Gene, 2011
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Friães A et al.
Molecular Genetics and Metabolism, 2006
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
Wedell A et al.
Human Molecular Genetics, 1993
[deficiency of growth hormone in children. Re-evaluation after therapeutic completion].
Martins T et al.
Acta Medica Portuguesa, 0
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
Vieira A et al.
Acta Medica Portuguesa, 0
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