Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L381H
Back to variants list

NR0B1

NM_000475.5:p.L381H

Associated Papers

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N et al.

Pituitary, 2017

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R et al.

Endocrine Development, 2011

Disorders of adrenal development.

Ferraz-de-Souza B et al.

Endocrine Development, 2008

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.

Verrijn Stuart AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Genetic disorders involving adrenal development.

Lin L et al.

Endocrine Development, 2007

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

Lin L et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

[Adrenal hypoplasia congenita: four new cases in children].

Pélissier P et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.

Mantovani G et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

Achermann JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

Achermann JC et al.

The Journal of Pediatrics, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."