Associated Papers
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
Soma N et al.
American Journal of Medical Genetics. Part A, 2017
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Astuti D et al.
Nature Genetics, 2012
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