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Similar Items: Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation

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An investigation into the catalytic activity of porcine cytochrome P450 17α-hydroxylase/17,20-lyase
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Mild Autonomous Cortisol Secretion in Context of Bilateral Macronodular Adrenocortical Disease due to ARMC5 Mutation: A Rare Familial Case
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21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy
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Bibliometric analysis and knowledge mapping of thoracic SMARCA4-deficient undifferentiated tumor
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Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy
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High-Risk Pregnancy Associated With Maternal Hypoparathyroidism and Medium-Chain Acyl-CoA Dehydrogenase Deficiency
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Clinical Presentation and Early Outcomes of Congenital Endocrine Salt‐Wasting Syndromes Unrelated to 21‐Hydroxylase Deficiency
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Non-Autoimmune Hyperthyroidism Associated With a Novel Germline Mutation (D633N) in the TSH Receptor
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Pituitary Tumour Apoplexy as Cause of Death of Simonetta Vespucci, the Venus by Botticelli
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Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report
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Efficacy and safety of dabrafenib plus trametinib in BRAFV600E-mutated advanced thyroid carcinoma: Real world experience in 37 patients
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Drug cross-reactivity between methimazole and propylthiouracil causing recurrent pancreatitis in thyroid storm
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Comprehensive identification of three key genes and three key DNA methylation CpG sites associated with prognosis and prediction in colon adenocarcinoma
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DUOXA2 Variants as an Underrecognized Cause of Diffuse Goiter: A Euthyroid Adult Case Responsive to Levothyroxine
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One genotype with a myriad of phenotypes: A family with multiple endocrine neoplasia
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Tirzepatide reduced alcohol use in three patients with alcohol-associated liver disease, type 2 diabetes, and obesity
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Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases
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Evaluation of High‐Density Lipoprotein Capacity to Acquire Free Cholesterol From Triglyceride‐Rich Lipoproteins During Reverse Remnant‐Cholesterol Transport in Familial Hypercholesterolemia
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Baboon cytochrome P450 c17 (17[alpha]-hydroxylase/17, 20 lyase) : cDNA cloning from adrenal mRNA and characterisation of the expressed enzyme
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A descriptive analysis of children and adolescents with Graves disease attending the paediatric endocrinology services of the Red Cross War Memorial Children's Hospital and Groote Schuur Hospital over 20 years