A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-06-01 Epub Date: 2024-06-30 DOI:10.6065/apem.2448176.088

Seung Heo, Young Suk Shim, Hae Sang Lee, Jin Soon Hwang

引用次数: 0

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导致 X 连锁先天性肾上腺皮质发育不全的 NR0B1 新型变异体。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Pediatric Endocrinology & Metabolism Multiple-

CiteScore

4.00

自引率

18.20%

发文量

审稿时长

24 weeks

期刊介绍： The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.