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Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants

INTRODUCTION: WT1 missense mutation in exon 8 or 9 causes infantile nephrotic syndrome with early progression to end-stage kidney disease (ESKD), Wilms tumor, and 46,XY female. However, some patients with missense mutations in exon 8 or 9 progress to ESKD in their teens or later. Therefore, we condu...

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Detalles Bibliográficos
Autores principales: Nagano, China, Takaoka, Yutaka, Kamei, Koichi, Hamada, Riku, Ichikawa, Daisuke, Tanaka, Kazuki, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Okada, Eri, Horinouchi, Tomoko, Yamamura, Tomohiko, Tsuji, Yurika, Noguchi, Yuko, Ishimori, Shingo, Nagase, Hiroaki, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8343804/
https://www.ncbi.nlm.nih.gov/pubmed/34386660
http://dx.doi.org/10.1016/j.ekir.2021.05.009