Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of <b><i>HSD3B2</i></b> and <b><i>CLCNKB</i></b> Mutations-Reference-Cited by-同舟云学术

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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Published:2020 Issue:2 Volume:93 Page:137-142
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Giri Dinesh,Bockenhauer Detlef,Deshpande Charu,Achermann John C,Taylor Norman F.,Rumsby Gill,Morgan Henry,Senniappan Senthil,Ajzensztejn Michal

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011 Feb;32(1):81–151.

2. Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. Semin Reprod Med. 2002 Aug;20(3):255–76.

3. Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, et al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney Int. 2018 Apr;93(4):961–7.

4. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays. 2000 May;22(5):452–9.

5. Nakka P, Pattillo Smith S, O’Donnell-Luria AH, McManus KF, Mountain JL, Ramachandran S, et al.; 23andMe Research Team. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Am J Hum Genet. 2019 Nov;105(5):921–32.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation;Molecular Genetics and Metabolism Reports;2024-09

2. Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions;Genome Medicine;2023-08-23

3. Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency;Diagnostics;2022-09-07

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