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Frasier syndrome

*Gene map locus 11p13
[Clinical features: male pseudohermaphroditism; gonadal dysgenesis predisposing to gonadoblastoma; nephrotic syndrome; focal segmental glomerulosclerosis]
[Inheritance: autosomal dominant]

An Unusual Phenotype of Frasier Syndrome due to IVS9 +4C>T Mutation in the WT1 Gene: Predominantly Male Ambiguous Genitalia and Absence of Gonadal Dysgenesis
Frasier Syndrome: A Cause of Focal Segmental Glomerulosclerosis in a 46,XX Female
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome
Journal of Clinical Endocrinology & Metabolism
Journal of the American Society of Nephrology
Nephrology Dialysis Transplantation


 

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Edited by Aldo Campana, February 8, 2010