Article

WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerular sclerosis with embryonal hyperplasia

2023-11-14

Abstract excerpt

<title>Abstract</title> <p>A 6-year-old boy was diagnosed with chromosomal abnormalities (48,XYY,+21[11]/46,XY[19]) at 4 months of age after a physical examination revealed an undescended testis and a dwarf penis. He also had mild renal dysfunction and severe proteinuria, and renal biopsy at 2 years of age revealed focal segmental glomerulosclerosis. Genetic analysis to investigate suspected <italic>WT1</italic>...

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Literature Corpus work: 225af912-bcb0-59d6-a8a9-59f6d568c0a5
DOI: 10.21203/rs.3.rs-3555698/v1

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