Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
- A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
- A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report
- A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency
- A Rare Cause of Virilization, Short Stature, and Hypertension
- Adeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia
- Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
- Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene
- Case Report: A combination of chimeric <em>CYP11B2/CYP11B1</em> and a novel p.Val68Gly <em>CYP11B</em>1 variant causing 11β-Hydroxylase deficiency in a Chinese patient
- Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient
- Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country
- Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in <em>STAR</em> and <em>CYP17A1</em>
- Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
- Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family
- Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
- Detection of Small <em>CYP11B1</em> Deletions and One Founder Chimeric <em>CYP11B2/CYP11B1</em> Gene in 11β-Hydroxylase Deficiency
- Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by <em>CYP11B</em> gene mutation
- Differentiating 11β-hydroxylase deficiency from primary glucocorticoid resistance syndrome in male precocity: real challenge in low-income countries
- Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene
- Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
- Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1
- Low-dose Aspirin may Prevent Preeclampsia by Inhibiting the Expression of ATF2
- Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
- Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature
- Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood
- Pregnancy in a woman with congenital adrenal hyperplasia with 11-beta-hydroxylase deficiency: A case report
- Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
- Rare cause of a resistant hypertension in a middle-aged man: A case report
- Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations
- Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family