Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1-Reference-Cited by-同舟云学术

Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1

Published:2014-01-08 Issue:0 Volume:0 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Ali Johari Mohd,Jalaludin Muhammad Yazid,Harun Fatimah

Publisher

Walter de Gruyter GmbH

Subject

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

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2014-0161/pdf

Reference28 articles.

1. linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX protein;Lehmann;Proc Natl Acad Sci USA,2002

2. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism : evidence that DAX mutations lead to combined hypothalmic and pituitary defects in gonadotropin production;Habiby;J Clin Invest,1996

3. signature motif in transcriptional co - activators mediates binding to nuclear receptors;Heery;Nature,1997

4. An unusual member of the nuclear hormone receptor superfamily responsible for linked adrenal hypoplasia congenita;Zanaria;Nature,1994

5. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism : evidence that DAX mutations lead to combined hypothalmic and pituitary defects in gonadotropin production;Habiby;J Clin Invest,1996

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1. X-linked congenital adrenal hypoplasia: a case presentation;BMC Endocrine Disorders;2021-06-15

2. Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected;Frontiers in Pediatrics;2020-08-12

3. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism;Pediatric Reports;2015-09-28