Condition: Denys-Drash Syndrome
rs121907909 in
WT1 gene and
Denys-Drash 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 27241786 2016 Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
PMID 9499425 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
PMID 9398852 1997 Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
PMID 10762296 2000 Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?