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Article

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.

Journal of pediatric hematology/oncology - 1 Nov 2022

Kollios Konstantinos, Karipiadou Aristea, Papagianni Maria, Traeger-Synodinos Joanne, Kosta Konstantina, Savvidou Parthena, Stabouli Stella, Roilides Emmanuel

Abstract excerpt

Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS type 1) or male phenotype, gonadal dysgenesis, progressive glomerulopathy, and high risk of gonadoblastoma. We describe a female patient with an IVS9+4C>T donor...

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PMID: 35700406
DOI: 10.1097/MPH.0000000000002501

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