Article
Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4.
Cold Spring Harbor molecular case studies - 1 Aug 2020
Sanford Erica, Wong Terence, Ellsworth Katarzyna A, Ingulli Elizabeth, Kingsmore Stephen F
Abstract excerpt
Relatively little is known about phenotypic variability in nonsyndromic nephropathy associated with the gene encoding the WT1 transcription factor. We report a 12-mo-old female who presented with vomiting, diarrhea, and fatigue in the setting of renal failure and malignant hypertension. Trio ultra-rapid whole-genome sequencing identified a novel, likely pathogenic, de novo missense variant (c.485T > A,...
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