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• W2023203512 startingPage "1675" @default.
• W2023203512 abstract "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 kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources." @default.
• W2023203512 created "2016-06-24" @default.
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• W2023203512 date "2007-10-01" @default.
• W2023203512 modified "2023-10-07" @default.
• W2023203512 title "Genetic approaches to human renal agenesis/hypoplasia and dysplasia" @default.
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• W2023203512 doi "https://doi.org/10.1007/s00467-007-0479-1" @default.
• W2023203512 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4969859" @default.
• W2023203512 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17437132" @default.
• W2023203512 hasPublicationYear "2007" @default.
• W2023203512 type Work @default.

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