Disease: Nephroblastomatosis- fetal ascites- macrosomia and Wilms tumor
- A role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathway
- Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation
- Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene
- Exonuclease requirements for mammalian ribosomal RNA biogenesis and surveillance
- Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2
- Loss of <em>Dis3l2</em> partially phenocopies Perlman syndrome in mice and results in up-regulation of <em>Igf2</em> in nephron progenitor cells
- Magnetic resonance imaging versus histopathology in Wilms tumor and nephroblastomatosis: 3 examples of noncorrelation
- Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication
- Overgrowth syndromes and pediatric cancers: how many roads lead to <em>IGF2</em>?
- Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs
- Perlman syndrome research progress
- Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2
- The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis
- The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984
- Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)