Article
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
Clinical genetics - 1 Feb 2020
Shapira Rootman Mika, Goldberg Yael, Cohen Rony, Kropach Nesia, Keidar Inbal, Friedland Rivka, Dotan Gad, Konen Osnat, Toledano Helen
Abstract excerpt
Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors and colorectal carcinomas. Phenotypic overlap with Neurofibromatosis-1 is well known, with most patients presenting with café-au-lait macules. Other common features...
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