Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …

Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the
Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144) …

Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by
nephrotic syndrome associated with microcephaly and neurological impairment. Through a …

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian
disorders, particularly for individuals in whom a known clinical entity could not be assigned …

The podocyte is a highly specialized kidney cell that is essential to the ultrafiltration of blood,
resulting in the extraction of urine and the retention of protein. Four studies, the most recent …

Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent
genetic cause of end-stage renal failure in the first three decades of life. Positional cloning of …

Severe proteinuria is a defining factor of nephrotic syndrome irrespective of the etiology.
Investigation of congenital nephrotic syndrome has shown that dysfunction of glomerular …

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal
function decline and affects millions of people. In a recent study, 30% of SRNS cases …

Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000
live births, represent about 20% of the prenatally detected anomalies, and constitute the …