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This disorder typically presents with nephrotic syndrome (gross proteinuria, hypoalbuminemia, and edema). Rapid diagnosis had an immediate impact on her clinical management in the pediatric intensive care unit. Diagnostic renal biopsy was avoided, and placement of permanent dialysis access, a gastrostomy tube, and bilateral nephrectomy were accelerated. This report expands the presenting phenotype of nonsyndromic nephrotic syndrome and\/or renal failure due to heterozygous variants in <jats:italic>WT1<\/jats:italic> (NPHS4). It also highlights the relationship between time to genomic diagnosis and clinical utility in critically ill infants.<\/jats:p>","DOI":"10.1101\/mcs.a005470","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T23:45:15Z","timestamp":1598399115000},"page":"a005470","source":"Crossref","is-referenced-by-count":11,"title":["Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1<\/i>-associated nephrotic syndrome type 4"],"prefix":"10.1101","volume":"6","author":[{"given":"Erica","family":"Sanford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terence","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna A.","family":"Ellsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Ingulli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen F.","family":"Kingsmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"2021112406082847000_6.4.a005470.1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.05670809"},{"key":"2021112406082847000_6.4.a005470.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.016"},{"key":"2021112406082847000_6.4.a005470.3","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.09351209"},{"key":"2021112406082847000_6.4.a005470.4","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aat6177"},{"key":"2021112406082847000_6.4.a005470.5","unstructured":"Dome JS , Huff V . 2016. 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