The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …

BACKGROUND Hypospadias is a common congenital malformation of the male external
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …

The term disorders of sex development (DSD) includes congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …

Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of
proteinuria and progression to end-stage renal disease. Approximately 10–25% of familial …

Background and objectives: The risk of developing Wilms tumor (WT) can be present or
absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the …

Results Median age was 12.4 (interquartile range [IQR], 6–19) years. Forty-four of 53 (83%)
patients had an exon mutation (36 missense, eight truncating), and nine of 53 (17%) had an …

Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …

Abstract Context: The Wilms' tumor suppressor gene (WT1) is one of the major regulators of
early gonadal and kidney development. WT1 mutations have been identified in 46, XY …

Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic
syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with …

Introduction Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9
splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in intron 9 cause a …