Article
Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.
Human genetics - 1 Apr 2023
Hamideh Dima, Das Anirban, Bianchi Vanessa, Chung Jiil, Negm Logine, Levine Adrian, Basbous Maya, Sanchez-Ramirez Santiago, Mikael Leonie, Jabado Nada, Atweh Lamya, Lteif Mireille, Mahfouz Rami, Tarek Nidale, Abboud Miguel, Muwakkit Samar, Hawkins Cynthia, Tabori Uri, Saab Raya
Abstract excerpt
Constitutional mismatch repair deficiency (CMMRD) is an aggressive and highly penetrant cancer predisposition syndrome. Because of its variable clinical presentation and phenotypical overlap with neurofibromatosis, timely diagnosis remains challenging, especially in countries with limited resources. Since current tests are either difficult to implement or interpret or both we used a novel and relatively...
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