An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in


Journal

International journal of endocrinology
ISSN: 1687-8337
Titre abrégé: Int J Endocrinol
Pays: Egypt
ID NLM: 101516376

Informations de publication

Date de publication:
2021
Historique:
received: 25 04 2021
revised: 02 10 2021
accepted: 26 11 2021
entrez: 23 12 2021
pubmed: 24 12 2021
medline: 24 12 2021
Statut: epublish

Résumé

X-linked congenital adrenal hypoplasia due to

Identifiants

pubmed: 34938333
doi: 10.1155/2021/4367028
pmc: PMC8687805
doi:

Types de publication

Journal Article

Langues

eng

Pagination

4367028

Informations de copyright

Copyright © 2021 Samira Kalayinia et al.

Déclaration de conflit d'intérêts

The authors declare no conflicts of interest.

Références

Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19
pubmed: 26303087
Pituitary. 2017 Oct;20(5):585-593
pubmed: 28741070
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
J Clin Endocrinol Metab. 2003 Jan;88(1):417-23
pubmed: 12519885
World J Pediatr. 2019 Jun;15(3):309-311
pubmed: 30891672
Ann Clin Biochem. 2009 Jan;46(Pt 1):1-2
pubmed: 19103953
Clin Endocrinol (Oxf). 2010 Apr;72(4):448-54
pubmed: 19508677
J Clin Endocrinol Metab. 2006 Aug;91(8):3048-54
pubmed: 16684822
Sex Dev. 2016;10(4):205-209
pubmed: 27648561
Iran Biomed J. 2008 Jan;12(1):49-53
pubmed: 18392095
Genet Test Mol Biomarkers. 2012 Feb;16(2):82-90
pubmed: 22017335
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303
pubmed: 29788355
J Clin Endocrinol Metab. 1999 Feb;84(2):504-11
pubmed: 10022408

Auteurs

Samira Kalayinia (S)

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Saeed Talebi (S)

Department of Medical Genetics, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Mohammad Miryounesi (M)

Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Peymaneh Sarkhail (P)

Pediatric Department, Atieh Hospital, Tehran, Iran.

Nejat Mahdieh (N)

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Classifications MeSH