Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

Keyphrases

• Gene mutation 100%
• Congenital Adrenal Hyperplasia 100%
• Genetic Heterogeneity 100%
• Clinical Heterogeneity 100%
• NR0B1 Gene 100%
• Sexual Development 50%
• Adrenal Insufficiency 50%
• Salt Wasting 50%
• X-linked Adrenal Hypoplasia Congenita 50%
• Adrenal Hypoplasia Congenita 50%
• Cortisol Deficiency 50%
• Israel 25%
• Clinical Characteristics 25%
• Enlargement 25%
• Molecular Analysis 25%
• Clinical Spectrum 25%
• Molecular Defects 25%
• Genetic Testing 25%
• Early childhood 25%
• Testicle 25%
• Failure to Thrive 25%
• Point mutation 25%
• Neonatal Period 25%
• Initial Diagnosis 25%
• Molecular Characteristics 25%
• Splicing mutation 25%
• Hypogonadotropic Hypogonadism 25%
• First Week of Life 25%
• Penis 25%
• Prominent Features 25%
• DAX1 25%
• Mineralocorticoid 25%
• Nuclear Receptor Superfamily 25%
• Serum Cortisol Level 25%
• Aldosterone 25%
• Mental Development 25%
• Contiguous Gene Deletion 25%
• Rare Disorders 25%

Biochemistry, Genetics and Molecular Biology

• Infancy 100%
• Gene Mutation 100%
• Genetic Heterogeneity 100%
• Cortisol 100%
• Point Mutation 50%
• Genetic Screening 50%
• Newborn Period 50%
• Splice Site Mutation 50%
• Hydrocortisone Blood Level 50%
• Nuclear Receptor DAX 1 50%
• Mental Development 50%
• Gene Deletion 50%
• Aldosterone 50%
• Mineralocorticoid 50%
• Nuclear Receptor 50%

Medicine and Dentistry

• Gene Mutation 100%
• Genetic Heterogeneity 100%
• Hypoplasia 100%
• Hydrocortisone 60%
• Infancy 40%
• Salt Wasting 40%
• Precocious Sexual Development 40%
• Adrenal Insufficiency 40%
• Disease 20%
• Orphan 20%
• Genetic Screening 20%
• Failure to Thrive 20%
• Testes 20%
• Hypogonadotropic Hypogonadism 20%
• Newborn Period 20%
• Phallus 20%
• Mental Development 20%
• Gene Deletion 20%
• Nuclear Receptor DAX 1 20%
• Point Mutation 20%
• Orphan Disorder 20%
• Mineralocorticoid 20%
• Cell Nucleus Receptor 20%
• Hypoaldosteronism 20%
• Congenital Adrenal Hyperplasia 20%