Article
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
The American journal of gastroenterology - 1 Feb 2016
Aronson Melyssa, Gallinger Steven, Cohen Zane, Cohen Shlomi, Dvir Rina, Elhasid Ronit, Baris Hagit N, Kariv Revital, Druker Harriet, Chan Helen, Ling Simon C, Kortan Paul, Holter Spring, Semotiuk Kara, Malkin David, Farah Roula, Sayad Alain, Heald Brandie, Kalady Matthew F, Penney Lynette S, Rideout Andrea L, Rashid Mohsin, Hasadsri Linda, Pichurin Pavel, Riegert-Johnson Douglas, Campbell Brittany, Bakry Doua, Al-Rimawi Hala, Alharbi Qasim Kholaif, Alharbi Musa, Shamvil Ashraf, Tabori Uri, Durno Carol
Abstract excerpt
OBJECTIVES: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospective and prospective surveillance data. METHODS: The International...
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