Article

Extrarenal clinical features are reported for most genes implicated in genetic kidney disease

2024-01-31

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Genetic kidney disease is typically suspected where there is a positive family history or extrarenal features. This study examined how often these criteria might be expected in genetic kidney disease. <bold>Methods: </bold>Two hundred and fifty-five genes from the Genomics England ‘green lists’ for Congenital Kidney Anomalies of the Kidney and Urinary Tract (CAK...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c4af2a9b-f049-5444-81bc-a32d1d332ffc
DOI: 10.21203/rs.3.rs-3895319/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Extrarenal clinical features are reported for most genes implicated in genetic kidney diseaseDOI 10.21203/rs.3.rs-3895319/v1Read

Beyond the Kidney: Extra-Renal Manifestations of Monogenic Nephrolithiasis and Their SignificanceSemantic proximity Read

Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.Semantic proximity Read

Diagnosis of monogenic chronic kidney diseasesSemantic proximity Read

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)Semantic proximity Read

Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Semantic proximity Read

CAKUT subtypes determine the rate of progression to kidney failure-an adult patient cohort study.Semantic proximity Read

Ocular manifestations of renal ciliopathiesSemantic proximity Read

Cystic diseases of the kidney: molecular biology and genetics.Semantic proximity Read

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathySemantic proximity Read

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.Semantic proximity Read

Genetic kidney diseases.Semantic proximity Read

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tractSemantic proximity Read