Article

Biallelic Mismatch Repair Deficiency – a rare and trouble genetic syndrome

2022-04-07

Abstract excerpt

Biallelic Mismatch Repair Deficiency (BMMRD) is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline mutations in one of four mismatch repair (MMR) genes ( MLH1, MSH2, MSH6, or PMS2 ) cause this devastating disease. Given the rarity of the syndrome, often-asymptomatic tumors and overlap with neurofibromatosis-1, diagnosis is frequ...

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Literature Corpus work: 813d2e7e-4b27-51be-8a90-8ed3cd62ee01
DOI: 10.21203/rs.3.rs-1523098/v1

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