Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma

Clin Genet. 2017 Oct;92(4):449-450. doi: 10.1111/cge.12977. Epub 2017 Mar 16.

Authors

A Trimouille¹, E Barouk-Simonet², S Charron³, J Bouron¹, J-C Bernhard⁴, D Lacombe^{1

3}, P Fergelot^{1

3}, C Rooryck^{1

3}

Affiliations

¹ CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.
² Pathology and Genetics Department, Institut Bergonié, Bordeaux, France.
³ University Bordeaux, INSERM U 1211 - Maladies Rares, Génétique et Métabolisme (MRGM), Bordeaux, France.
⁴ CHU Bordeaux, Service d'Urologie, Bordeaux, France.

PMID: 28303571
DOI: 10.1111/cge.12977

No abstract available

Keywords: E2F3; SOX4; cleft palate; nephroblastoma; topological associated domain.

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Cleft Lip / genetics*
Cleft Lip / physiopathology
Cleft Palate / genetics*
Cleft Palate / physiopathology
Humans
Male
SOXC Transcription Factors / genetics*
Sequence Deletion
Wilms Tumor / genetics*
Wilms Tumor / physiopathology

Substances

SOX4 protein, human
SOXC Transcription Factors