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- Title
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.
- Authors
Trimouille, A.; Barouk‐Simonet, E.; Charron, S.; Bouron, J.; Bernhard, J.‐C.; Lacombe, D.; Fergelot, P.; Rooryck, C.
- Abstract
The article describes the case of a 4-year-old white child patient with a history of a right epithelial type nephroblastoma, mild psychomotor delay and facial dysmorphism, which are associated with deletion of the transcription factor SOX4. The patient was subjected to several medical examinations including Array-CGH, Sanger sequencing on tumor DNA and RT-qPCR. The role of SOX4 codes in embryogenesis and neurogenesis is discussed.
- Subjects
NEPHROBLASTOMA; PSYCHOMOTOR disorders; TRANSCRIPTION factors; EMBRYOLOGY; DEVELOPMENTAL neurobiology
- Publication
Clinical Genetics, 2017, Vol 92, Issue 4, p449
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12977