An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity
Sten Ivarsson
The Journal of Clinical Endocrinology & Metabolism, 2002
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Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Karl Schwab
Molecular and Cellular Pediatrics, 2020
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The Genetics of Steroid 21-Hydroxylase Deficiency
Javier Aisenberg
The Endocrinologist, 2005
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Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
Reiko Horikawa
Endocrine Journal, 2007
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Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
Franz Waldhauser
European Journal of Endocrinology, 2005
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CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
Berenice Mendonca
Hormone and Metabolic Research, 2013
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Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
noura zouari
Clinical Endocrinology, 2011
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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Phyllis Speiser
Journal of Clinical Investigation, 1992
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Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
Vita Dolzan
European Journal of Endocrinology, 1999
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Common Genetic Variants of the Human Steroid 21- Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels
Klara Koncz, Marton Doleschall
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Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Tinka Hovnik
Acta Chimica Slovenica, 2016
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Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
brian gonzalez
Proceedings of the National Academy of Sciences, 2013
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High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
Phyllis Speiser
Obstetrical & Gynecological Survey, 1986
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Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
Leonidas Phylactou, Vassos Neocleous
Clinical Biochemistry, 2011
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Congenital Adrenal Hyperplasia - The Main Effect of 21-Hydroxylase Deficiency
Davide Carvalho
IntechOpen eBooks, 2022
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Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency
Miklós Garami
Experimental and Clinical Endocrinology & Diabetes, 2003
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Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
mohammad Taghi Akbari
Clinical Chemistry and Laboratory Medicine, 2010
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HETEROGENEITY OF STEROID 21-HYDROXYLASE GENES IN CLASSICAL CONGENITAL ADRENAL HYPERPLASIA
Roger Dawkins
European Journal of Immunogenetics, 1987
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Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
DJ Day, Phyllis Speiser
Human Molecular Genetics, 1996
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Mutational Characterization of Steroid 21Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
Selma Fernandes
Experimental and Clinical Endocrinology & Diabetes, 2009
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Gu-Hwan Kim
Annals of pediatric endocrinology & metabolism, 2016
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Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Henrik Falhammar
BMC Endocrine Disorders
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Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Berenice Mendonca
Clinics (São Paulo, Brazil), 2011
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Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia 1
Csaba Barta
The Journal of Clinical Endocrinology & Metabolism, 1999
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Research Article Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
Vassos Neocleous, Meropi Toumba
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Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia
Miklós Garami
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Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency
Holger Luthman
Human Genetics, 1994
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Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Kim Thiên Nguyễn
Molecular Diagnosis & Therapy, 2018
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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Gabriela Finkielstain
The Journal of Clinical Endocrinology & Metabolism, 2011
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