Project Description

“Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy”

In this article, published in the Journal of Medical Genetics, guidelines for the diagnosis of constitutional mismatch repair-deficiency syndrome (CMMD) as differential diagnosis of neurofibromatosis type 1 were published. A click on the following button takes you directly to the article.

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