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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Bibliographic Details
Main Authors: Qing Shao (Author), Xinglei Xie (Author), Jia Geng (Author), Xiaoling Yang (Author), Wei Li (Author), Yuwei Zhang (Author)
Format: Book
Published: MDPI AG, 2023-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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