Disease: X-linked adrenal hypoplasia congenita
- A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report
- A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of <em>NR0B1</em> (<em>DAX1</em>) and Contiguous Gene
- A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
- A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation
- A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism
- A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
- A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia
- A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia
- A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia
- A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
- A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses
- A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita
- A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report
- Adrenal Development in Mice Requires GATA4 and GATA6 Transcription Factors
- Adrenal hypoplasia congenita in identical twins
- Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier
- Adult-onset X-linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review
- Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review
- Against the Odds
- Aldosterone signaling defect in young infants: single-center report and review
- Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children
- Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature
- Case 2: A 4-year-old Boy with Recurrent Vomiting
- Case Report: A Novel Truncating Variant of <em>NR0B1</em> Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism
- Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
- Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency
- Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
- Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
- Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene
- Clinical and mutational analysis of 7 children with X-linked adrenal dysplasia congenita
- Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test
- Complex glycerol kinase deficiency - long-term follow-up of two patients
- Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning
- Congenital adrenal hypoplasia due to p.Leu386Pro mutation in DAX1
- Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience
- CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
- DAX1-unusual member of nuclear receptors superfamily with diverse functions
- Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report
- Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in <em>DAX1</em>
- Disorders of Sexual Development in Adult Women
- Dysfunction of hypothalamic-pituitary-testicular axis in patients with adrenal hypoplasia congenita due to DAX-1 gene mutation
- Electrochemical sensing of cortisol: a recent update
- Evaluation of aldosterone concentrations in dogs with hypoadrenocorticism
- Evaluation of Serum Oxidized Low-Density Lipoprotein in Renal Transplant Recipients and Hemodialysis Patients and Relation With Involved Variables
- Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing
- Genetic forms of adrenal insufficiency
- Glucagon response to oral glucose challenge in type 1 diabetes: lack of impact of euglycemia
- Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism
- Hypertriglyceridaemia unresponsive to multiple treatments
- Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism
- Identification and Functional Analysis of Six <em>DAX1</em> Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
- Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
- IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature
- Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita
- Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
- Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1
- Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center
- Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report
- MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromos
- Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder
- New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images
- Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
- Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (<em>NR0B1</em>) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India
- Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Novel non-stop variant of the <em>NR0B1</em> gene in two siblings with adrenal hypoplasia congenita
- NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty
- Persistent hypoglycemia
- Pleomorphism of the HPG axis with <em>NR0B1</em> gene mutation - a case report of longitudinal follow-up of a proband with central precocious puberty
- Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita
- Pseudo-hypertriglyceridaemia or hyperglycerolemia?
- Recurrent anorexia and pigmentation of skin for more than two months in an infant
- Recurrent Vomiting in a 4-Year-Old Boy
- Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia
- Rice endosperm protein slows progression of fatty liver and diabetic nephropathy in Zucker diabetic fatty rats
- SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
- Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
- Successful treatment of psoriatic arthritis associated with adrenal hypoplasia congenita using infliximab
- Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
- Testicular steroidogenic cells to the rescue
- Using high-dose omega-3 fatty acid supplements to lower triglyceride levels in 10- to 19-year-olds
- X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene
- X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1 (DAX1): a case report
- X-linked Adrenal Hypoplasia Congenita Due to NR0B1 (DAX1) Deficiency Presenting as Severe Respiratory Distress in Near Term Infants
- X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes
- X-linked adrenal hypoplasia congenita: a case report and ethical dilemma
- X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation
- X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene
- X-linked congenital adrenal dysplasia with hypogonadotropic hypogonadism: a case report
- X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation
- X-linked congenital adrenal hypoplasia: a case presentation
- X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene
- Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
- Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature