Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy

Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (female external genitalia with a 46 XY karyot...

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Detalles Bibliográficos
Autores principales: Shao, Qing, Xie, Xinglei, Geng, Jia, Yang, Xiaoling, Li, Wei, Zhang, Yuwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046944/
https://www.ncbi.nlm.nih.gov/pubmed/36980135
http://dx.doi.org/10.3390/children10030577

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046944/
https://www.ncbi.nlm.nih.gov/pubmed/36980135
http://dx.doi.org/10.3390/children10030577

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