A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults-Reference-Cited by-同舟云学术

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A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults

Published:2017-03-01 Issue:3 Volume:92 Page:344-346
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Oh C.-M.¹^ORCID,Chun S.¹,Lee J.-E.²,Lee J.S.³,Park S.⁴,Gee H.Y.³,Kim S.W.⁵⁶

Affiliation:

1. Department of Internal Medicine, CHA Bundang Medical Center; School of Medicine CHA University; Seongnam Korea

2. Department of Internal Medicine; Seoul National University Bundang Hospital; Seoul Korea

3. Department of Pharmacology, Brain Korea 21 Project for Medical Sciences; Yonsei University College of Medicine; Seoul Korea

4. Department of Biochemistry, College of Medicine; Catholic Kwandong University; Gangneung Korea

5. Department of Internal Medicine; Seoul National University College of Medicine; Seoul Korea

6. Department of Internal Medicine; Boramae Medical Center; Seoul Korea

Funder

Ministry of Education

Boramae Medical Center

Yonsei University College of Medicine

Kwandong University

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12966/fullpdf

Reference5 articles.

1. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism;Tabarin;J Clin Invest,2000

2. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female;Bernard;Mol Genet Metab,2006

3. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients;Lehmann;Hum Mol Genet,2003

4. DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease;Suntharalingham;Best Pract Res Clin Endocrinol Metab,2015

5. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia;Li;J Clin Endocrinol Metabol,2010

Cited by 10 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. Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review;Experimental and Therapeutic Medicine;2022-08-19

2. Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism;Frontiers in Endocrinology;2022-06-16

3. The Genetic Backdrop of Hypogonadotropic Hypogonadism;International Journal of Molecular Sciences;2021-12-08

4. Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism;Journal of the Endocrine Society;2020-11-13

5. Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation;BMC Endocrine Disorders;2020-02-06

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