A rare homozygous variant of
ACTH resistance
Chinese siblings
FGD1
MC2R
homozygous mutation
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
01
12
2022
accepted:
08
02
2023
entrez:
13
3
2023
pubmed:
14
3
2023
medline:
15
3
2023
Statut:
epublish
Résumé
Melanocortin-2 receptor ( We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in We reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in
Sections du résumé
Background
Melanocortin-2 receptor (
Case presentation
We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in
Conclusions
We reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in
Identifiants
pubmed: 36909322
doi: 10.3389/fendo.2023.1113234
pmc: PMC10003339
doi:
Substances chimiques
Glucocorticoids
0
Receptor, Melanocortin, Type 2
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1113234Informations de copyright
Copyright © 2023 Liu, Zeng, Luo, Peng, Xu, Liu, Wu, Lu and Huang.
Déclaration de conflit d'intérêts
Author was QLu employed by GeneMind Biosciences Company Limited. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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