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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,...

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Detalles Bibliográficos
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