Sibling Cases of Addison's Disease Caused byDAX-1 Gene Mutations-Reference-Cited by-同舟云学术

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Sibling Cases of Addison's Disease Caused byDAX-1 Gene Mutations

Published:2007 Issue:1 Volume:46 Page:35-39
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Sekiguchi Yoshihiro¹,Hara Yoshihito¹,Matsuoka Hiroshi¹,Hayashi Yoshiki¹,Katsumata Noriyuki²,Hirata Yukio³

Affiliation:

1. Divisions of Endocrinology, Metabolism and Pediatrics, Ohme Municipal General Hospital

2. Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development

3. Department of Clinical and Molecular Endocrinology, Tokyo Medical and Dental University Graduate School

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/46/1/46_1_35/_pdf

Reference11 articles.

1. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure

2. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Cited by 13 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. Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita;Journal of Pediatric Endocrinology and Metabolism;2022-07-14

3. 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

4. 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

5. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita;Journal of the Endocrine Society;2018-12-12

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