Adrenal Hypoplasia Congenita—Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations-Reference-Cited by-同舟云学术

Adrenal Hypoplasia Congenita—Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations

Published:2022-03-01 Issue:6 Volume:89 Page:587-590
ISSN:0019-5456
Container-title:Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Gupta Priyanka,Sharma Rajni,Jain Vandana^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s12098-021-04055-2.pdf

Reference10 articles.

1. Gupta S, Joshi K, Zaidi G, et al. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. J Pediatr Endocrinol Metab. 2019;32:863–9.

2. Iyer AK, McCabe ERB. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004;83:60–73.

3. Lin L, Gu WX, Ozisik G, et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J Clin Endocrinol Metab. 2006;91:3048–54.

4. Jadhav U, Harris RM, Jameson JL. Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cell Endocrinol. 2011;346:65–73.

5. Reutens AT, Achermann JC, Ito M, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab. 1999;84:504–11.

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