Associated Papers
A review of the genetic background in complicated WT1-related disorders.
Nagano C et al.
Clinical and Experimental Nephrology, 2025
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
Kollios K et al.
Journal of Pediatric Hematology/oncology, 2022
Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.
Çakır AY et al.
Turkish Journal of Medical Sciences, 2022
Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.
Kumar AS et al.
The Indian Journal of Medical Research, 2016
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.
Benz K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.
Miyoshi Y et al.
Endocrine Journal, 2006
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.
Melo KF et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Frasier syndrome with childhood-onset renal failure.
Buzi F et al.
Hormone Research, 2001
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
Denamur E et al.
Kidney International, 2000
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