A novel WT1 gene mutation in a chinese girl with denys‐drash syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23769
Abstract: 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. read more here.
Keywords: gene mutation; denys drash; drash syndrome;
46-XY Denys-Drash Syndrome. Is There a Role for Nephron-sparing Modalities in Management of Renal Masses? A Report of 2 Cases.
Sign Up to like & getrecommendations! Published in 2018 at "Urology"
DOI: 10.1016/j.urology.2018.04.023
Abstract: Denys-Drash syndrome (DDS) is a combination of genital and urinary anomalies that are mostly associated with renal and gonadal malignancies. We report 2 patients who presented with genital ambiguity and were diagnosed as 46-XY DDS.… read more here.
Keywords: role nephron; drash syndrome; denys drash; report ... See more keywords
Neonatal serum electrolyte and proteinuria screening on 46,XY ambiguous genitalia patients may allow early diagnosis of Denys-Drash Syndrome: A Case Report.
Sign Up to like & getrecommendations! Published in 2020 at "Urology"
DOI: 10.1016/j.urology.2020.11.035
Abstract: A term infant with prenatally noted ambiguous genitalia and nonpalpable gonads presented with life-threatening hyponatremia, hypertension, acidosis and anuric renal failure requiring peritoneal dialysis at age 3 months. Sequencing confirmed 46,XY Denys-Drash syndrome (DDS) due… read more here.
Keywords: diagnosis; neonatal serum; drash syndrome; denys drash ... See more keywords
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome
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DOI: 10.1097/md.0000000000025864
Abstract: Abstract Rationale: Pediatric patients with WTl-associated syndromes (including Wilms’ tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk… read more here.
Keywords: gene; denys drash; tumor; drash syndrome ... See more keywords
Testicular Preservation in 46 XY Denys-Drash Syndrome: A Report of Two Cases
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DOI: 10.1159/000490552
Abstract: Denys Drash Syndrome (DDS) is a rare combination of genital and urinary anomalies that are mostly associated with malignancy. We report 2 patients who presented with genital ambiguity and were diagnosed as 46-XY DDS. During… read more here.
Keywords: drash syndrome; preservation denys; testicular preservation; denys drash ... See more keywords