A new study shows germline MBD4 mutations cause an autosomal recessive tumor predisposing syndrome associated with: This highlights the importance of including MBD4 in genetic testing for polyposis and multi-tumor phenotypes to improve disease management. Use the link in bio to learn more! Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.
Tag: adenomatous colorectal polyposis
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