A novel WT1 gene mutation in a chinese girl with denys-drash syndrome

Objective: Denys-Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision-making. Methods: We present a patient with an XY karyotype and femal...

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Bibliographic Details
Main Authors:	Cai, J. (Author), Guan, Z. (Author), He, M. (Author), Jin, H. (Author), Li, L. (Author), Mao, J. (Author), Shu, Q. (Author), Wang, F. (Author), Wang, J. (Author), Zhao, M. (Author), Zhu, K. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	46 abdominal mass abdominal radiography albumin albumin blood level amino acid sequence Amino Acid Sequence antineoplastic agent Article Asian continental ancestry group Asian Continental Ancestry Group B scan Base Sequence CA 19-9 antigen carcinoembryonic antigen carcinogenesis case report Cell Line, Tumor cell viability chemistry child China Chinese clinical article clinical examination clitoris hypertrophy complementary DNA computer assisted tomography computer simulation Computer Simulation contrast enhancement Denys Drash syndrome Denys-Drash Syndrome Denys-Drash syndrome (DDS) diagnostic imaging disease severity DNA extraction DNA sequence electrocardiogram enalapril maleate exon female Female follow up Follow-Up Studies genetic screening genetics genomic DNA heterozygosity high throughput sequencing histopathology human human tissue Humans hypertension image analysis indel mutation infant Infant karyotype kidney biopsy kidney disease laboratory test laparoscopy Laparoscopy large core needle biopsy microalbuminuria missense mutation mutation Mutation nephrectomy nephroblastoma nephrotic syndrome nucleotide sequence pedigree Pedigree physical examination preschool child RNA extraction Sanger sequencing sequence alignment single nucleotide polymorphism Tomography, X-Ray Computed tumor cell line valsartan Wilms tumor Wilms Tumor Wilms tumor-1 (WT1) WT1 gene WT1 protein WT1 protein, human WT1 Proteins x-ray computed tomography XY karyotype
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A novel WT1 gene mutation in a chinese girl with denys-drash syndrome

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