Condition: Frasier Syndrome
rs121907909 in
WT1 gene and
Frasier Syndrome
PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
PMID 23295293 2012 Frasier syndrome: four new cases with unusual presentations.
PMID 9499425 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
PMID 28204945 2017 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
PMID 25818337 2015 Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.