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Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report

Xu, M; He, HS; Yang, ZQ; Luo, P; Wang, Q; Gao, F

Gao, F (corresponding author), 940th Hosp Joint Logist Support Force Chinese Peo, Dept Colorectal & Anal Surg, 333 Nanbinhe Rd, Lanzhou 730050, Gansu, Peoples R China.; Wang, Q (corresponding author), Ctr Leon Berard, Joint Lab Constitut Genet Frequent Canc HCL CLB, Canc Genom Platform, 28 Rue Laennec, F-69008 Lyon, France.

BIOMEDICAL REPORTS, 2020; 12 (3): 134

Abstract

Constitutional MMR-deficiency syndrome (CMMRD) is a rare but severe hereditary syndrome of pediatric cancer caused by bi-allelic pathogenic variants i......

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