Related references
Note: Only part of the references are listed.Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Gabriela P. Finkielstain et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Nonclassic Congenital Adrenal Hyperplasia
Selma Feldman Witchel et al.
INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2010)
Clinical and Molecular Characterization of a Cohort of 161 Unrelated Women with Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and 330 Family Members
Maud Bidet et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia:: Identification of two novel mutations and characterization of four different partial gene conversions
A Friaes et al.
MOLECULAR GENETICS AND METABOLISM (2006)
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
L Loidi et al.
CLINICAL ENDOCRINOLOGY (2006)
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
V Dolzan et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2005)
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
RS Araujo et al.
CLINICAL ENDOCRINOLOGY (2005)
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations
NMML Stikkelbroeck et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency:: relevance of genotype for management
G Pinto et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: Identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21
S Koyama et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
TASS Bachega et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
C Deneux et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2001)
How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency
D L'Allemand et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
PC White et al.
ENDOCRINE REVIEWS (2000)
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany
N Krone et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)