Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

ABSTRACT: Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kid

SUBMITTER: Sanna-Cherchi S 

PROVIDER: S-EPMC1994209 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature