Cargando…
Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
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,...
Autores principales: | Zhang, Yiwen, Dong, Bingzi, Xue, Yu, Wang, Yunyang, Yan, Jing, Xu, Lili |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020625/ https://www.ncbi.nlm.nih.gov/pubmed/36936162 http://dx.doi.org/10.3389/fendo.2023.1133492 |
Ejemplares similares
-
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
por: Valenza, Fabiola, et al.
Publicado: (2019) -
Carson McCullers : un corazón juvenil
por: Savigneau, Josyane
Publicado: (1995) -
The feasibility of implementing in Fortran the Culler-Fried on-line console display system
por: Benson, W H
Publicado: (1967) -
Excess Uric Acid Induces Gouty Nephropathy Through Crystal Formation: A Review of Recent Insights
por: Mei, Yongsheng, et al.
Publicado: (2022) -
Pathogenic REST variant causing Jones syndrome and a review of the literature
por: Rahikkala, Elisa, et al.
Publicado: (2022)