Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

Keyphrases

• Genetic Screening 100%
• Gene mutation 100%
• Congenital Adrenal Hyperplasia 100%
• Hyperandrogenemia 100%
• Nonclassical Congenital Adrenal Hyperplasia 100%
• CYP11B1 Gene 100%
• CYP21A2 Gene 60%
• Genetic Defects 40%
• CYP11B1 40%
• Classic CAH 40%
• Heterozygous State 40%
• Most Common Cause 20%
• Direct Sequencing 20%
• Autosomal Recessive 20%
• Clinical Features 20%
• Female Patients 20%
• Cortisol 20%
• Enzymatic Activity 20%
• Rare Type 20%
• Structural Characterization 20%
• CYP21A2 20%
• CYP21A2 Gene mutations 20%
• Defect Type 20%
• Diverse Phenotype 20%
• 11β-hydroxylase Deficiency 20%
• Beta Sheet 20%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• Genetic Screening 100%
• Genetics 66%
• Autosomal Recessive Disorder 33%
• Enzyme Activity 33%
• Beta Sheet 33%
• Oxygenase 33%
• Cortisol 33%

Pharmacology, Toxicology and Pharmaceutical Science

• Congenital Adrenal Hyperplasia 100%
• Hyperandrogenism 100%
• Genetic Disorder 25%
• Autosomal Recessive Disorder 12%
• Clinical Feature 12%
• Hydrocortisone 12%
• Steroid 11beta Monooxygenase 12%