Gordon Holmes syndrome – first time diagnosed in Croatia

Gordon Holmes syndrome – first time diagnosed in Croatia

We present a 38-year-old woman with clinical presentation of ataxia, cognitive impairment, and secondary amenorrhea with remarkable brain hyperintensities on brain magnetic resonance imaging (MRI). Clinical symptoms began at the age of 20 years with the development of secondary amenorrhea, instabili...

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Detalles Bibliográficos
Autores principales: Vesna Brinar, Karin Zibar Tomšić, David Ozretić, Franko Stepčić
Formato: article
Lenguaje:EN
HR
Publicado: Hrvatski liječnički zbor 2021
Materias:
cerebellar ataxia – complications
genetics; hypogonadism – complications
genetics; amenorrhea – etiology; gonadotropin-releasing hormone – deficiency
genetics; mutation; ubiquitin-protein ligases – genetics; ubiquitination; cognitive dysfunction – complications; brain – diagnostic imaging
Medicine (General)
R5-920
Acceso en línea:https://doaj.org/article/ead30ae8070c46abac9f27f440c4b730
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Internet

https://doaj.org/article/ead30ae8070c46abac9f27f440c4b730

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