A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review-Reference-Cited by-同舟云学术

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A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review

Published:2023-06 Issue: Volume: Page:
ISSN:0003-4266
Container-title:Annales d'Endocrinologie
language:en
Short-container-title:Annales d'Endocrinologie

Author:

Pons Fernández Natividad,Moriano Gutiérrez Ana,Taberner Pazos Belén,Tarragon Cros Andrés,Díez Gandía Eva,Zuñiga Cabrera Ángel

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Reference68 articles.

1. Etiology of primary adrenal insufficiency in children: a 29-year single-center experience;Wijaya;J Pediatr Endocrinol Metab,2019

2. Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort;Guran;J Clin Endocrinol Metab,2016

3. Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK;Buonocore;J Endocr Soc,2021

4. Novel melanocortin 2 receptor variant in a Chinese infant with familial glucocorticoid deficiency type 1. Case report and review of literature;Abuduxikuer;Front Endocrinol (Lausanne),2019

5. A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population;O’Riordan;J Clin Endocrinol Metab,2008

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