Original paper
Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
Abstract
Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9-year-old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next-generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were...
Paper Details
Title
Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
Published Date
Jun 8, 2018
Journal
Volume
6
Issue
8
Pages
1448 - 1451
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Notes
History