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Article

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2007

Kanemoto Katsuyoshi, Ishikura Kenji, Ariyasu Daisuke, Hamasaki Yuko, Hataya Hiroshi, Hasegawa Yukihiro, Ikeda Masahiro

Abstract excerpt

The Wilms' tumor suppressor gene (WT1) plays crucial roles in urogenital and gonadal development. Germline mutations of WT1 have been reported in patients with Denys-Drash syndrome (DDS) and Frasier syndrome (FS). Based on clinical overlaps reported to date, it has been suggested that these two syndromes should be considered as part of a spectrum of diseases caused by WT1 gene mutations, rather than as separate...

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Identifiers

PMID: 17061122
DOI: 10.1007/s00467-006-0333-x

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WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.PMID 17061122Read ↗

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