Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4

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-r...

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Detalles Bibliográficos
Autores principales: Sanford, Erica, Wong, Terence, Ellsworth, Katarzyna A., Ingulli, Elizabeth, Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476414/
https://www.ncbi.nlm.nih.gov/pubmed/32843431
http://dx.doi.org/10.1101/mcs.a005470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476414/
https://www.ncbi.nlm.nih.gov/pubmed/32843431
http://dx.doi.org/10.1101/mcs.a005470

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