The great mimicker: phenotypic overlap between Constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

This study suggests that features of Tuberous sclerosis especially when overlapping with those of Neurofibromatosis 1 or malignancies atypical for these syndromes should raise the possibility of constitutional mismatch repair deficiency. Correct diagnosis is essential for appropriate genetic counselling and pre-emptive cancer surveillance. This article is protected by copyright. All rights reserved. PMID: 31730237 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research