Case report: A case of Culler-Jones syndrome caused by a novel mutation of
Culler-Jones Syndrome
GLI2 gene
anosmia
high- throughput sequencing
hypogonadotropic hypogonadism
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:
29
12
2022
accepted:
16
02
2023
entrez:
20
3
2023
pubmed:
21
3
2023
medline:
22
3
2023
Statut:
epublish
Résumé
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the
Identifiants
pubmed: 36936162
doi: 10.3389/fendo.2023.1133492
pmc: PMC10020625
doi:
Substances chimiques
GLI2 protein, human
0
Zinc Finger Protein Gli2
0
Nuclear Proteins
0
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1133492Informations de copyright
Copyright © 2023 Zhang, Dong, Xue, Wang, Yan and Xu.
Déclaration de conflit d'intérêts
The 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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