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Denys-Drash syndrome

MIM.194080

Wednesday 11 February 2004

Ent. 1967

Synospsis

- diffuse mesangial sclerosis (DMS)
- male sex reversal (male pseudohermaphrosim)

Etiology

- constitutional punctual mutations in the WT1 gene (zing-fingers)

References

- Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#

- Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC. Curr Opin Pediatr. 2008 Feb;20(1):103-6. PMID: #18197048#