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1por Tsuji, Yurika, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Sakakibara, Nana, Ishiko, Shinya, Aoto, Yuya, Rossanti, Rini, Okada, Eri, Tanaka, Eriko, Tsugawa, Koji, Okamoto, Takayuki, Sawai, Toshihiro, Araki, Yoshinori, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai“…INTRODUCTION: Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9 splicing variants of WT1. …”
Publicado 2021
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2“…Frasier syndrome is a rare disease that affects the kidneys and genitalia. …”
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3“…Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. …”
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4por Matsuoka, Daisuke, Noda, Shunsuke, Kamiya, Motoko, Hidaka, Yoshihiko, Shimojo, Hisashi, Yamada, Yasushi, Miyamoto, Tsutomu, Nozu, Kandai, Iijima, Kazumoto, Tsukaguchi, Hiroyasu“…Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenesis led to the diagnosis of Frasier syndrome. CONCLUSIONS: Our findings, together with those of others, point to the importance of heterogeneity in clinicopathological phenotypes caused by Wilms tumor 1 mutations and suggest that immune-complex-mediated membranoproliferative glomerulopathy should be considered as a histological variant.…”
Publicado 2020
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5por Jean Paul, Axler, Louis, Dieuguens, Desravines, Ansly Jefferson, Jean, Raema Mimrod, Jean Baptiste, Alfadler, Buteau, Jean Henold, Andre, Wislet“…OBJECTIVE: Frasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. …”
Publicado 2021
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