Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Abstract
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only...
Paper Details
Title
Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Published Date
Apr 1, 2017
Journal
Volume
91
Issue
4
Pages
507 - 519
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