Identification of Novel Mutations of the <i>DAX-1</i> Gene in Patients with X-Linked Adrenal Hypoplasia Congenita-Reference-Cited by-同舟云学术

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Identification of Novel Mutations of the DAX-1 Gene in Patients with X-Linked Adrenal Hypoplasia Congenita

Published:2005 Issue:4 Volume:63 Page:200-205
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Choi Jin-Ho,Shin Young-Lim,Kim Gu-Hwan,Kim Youngho,Park Sangwook,Park Jung-Young,Oh Changkyu,Yoo Han-Wook

Publisher

S. Karger AG

Subject

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

Reference23 articles.

1. Variable Presentation of X-linked Adrenal Hypoplasia Congenita

2. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: A new autosomal recessive syndrome

3. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients

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

5. Lin L, Achermann JC: Inherited adrenal hypoplasia: Not just for kids! Clin Endocrinol 2004;60:529-537.

Cited by 16 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. A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita;Annals of Pediatric Endocrinology & Metabolism;2024-06-30

2. Neonatal adrenal insufficiency - beyond the common causes;J PEDIATR NEONATAL I;2022

3. Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age;Annals of Pediatric Endocrinology & Metabolism;2021-09-30

4. A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia;Current Medical Science;2020-02

5. X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the EntireNR0B1 (DAX1)andMAGEB1–4Genes;International Journal of Endocrinology;2016

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