DIS3L2

Publications

Astuti D et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet 2012;44:277-84. PMID: 22306653.

Hol JA et al. Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group. Eur J Cancer. 2021;153:51-63. PMID: 34134020.

Morris MR et al. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. Am J Med Genet C Semin Med Genet 2013;163C:106-13 PMID: 23613427.

Soma N et al. Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2. Am J Med Genet A. 2017;173:1077-1081. PMID: 28328139.