Unique Combination of Diamond–Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report
Abstract
We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a...
Paper Details
Title
Unique Combination of Diamond–Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report
Published Date
Apr 16, 2021
Journal
Volume
11
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