Aldosterone synthase deficiency associated with a CYP11B2 variant of uncertain significance: Case report and literature review

Authors: Bayan AlNassir, Hessah AlOtaibi

Source: Journal of Clinical and Translational Endocrinology Case Reports, Vol 32, Iss , Pp 100164- (2024)

Subject Terms: Aldosterone synthase deficiency, Isolated primary hypoaldosteronism, CYP11B2, Variant of uncertain significance, Autosomal recessive, Salt wasting, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214624524000030; https://doaj.org/toc/2214-6245

Access URL: https://doaj.org/article/984ed4654a0a4c90a0c1208a79298eb2

Aldosterone signaling defect in young infants: single-center report and review

Authors: Melati Wijaya, Huamei Ma, Jun Zhang, Minlian Du, Yanhong Li, Qiuli Chen, Song Guo

Source: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)

Subject Terms: Salt wasting, Infant, Primary adrenal insufficiency, Adrenal disease, Aldosterone synthase deficiency, Pseudohypoaldosteronism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6823

Access URL: https://doaj.org/article/47705f664a9b4e2eb245a35bc71cad3e

Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2

Authors: Hande Turan, Aydilek Dağdeviren Çakır, Yavuz Özer, Gürkan Tarçın, Bahar Özcabi, Serdar Ceylaner, Oya Ercan, Saadet Olcay Evliyaoğlu

Source: JCRPE, Vol 13, Iss 2, Pp 232-238 (2021)

Subject Terms: aldosterone synthase deficiency, salt wasting, cyp11b2 gene, corticosterone methyloxidase type 2, failure to thrive, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.jcrpe.org/archives/archive-detail/article-preview/clinical-and-genetic-characteristics-of-patients-w/38659; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

Access URL: https://doaj.org/article/e3df53c6513f42b7977be99d23eae3b5

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