Article
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2017
Crawford Brendan D, Gillies Christopher E, Robertson Catherine C, Kretzler Matthias, Otto Edgar A, Vega-Warner Virginia, Sampson Matthew G
Abstract excerpt
BACKGROUND: More than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a known monogenic form of NS. Even in those children classified with a monogenic form of NS, there is...
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