Risk of colorectal adenomas and cancer in monoallelic carriers of MUTYH pathogenic variants: a single-centre experience
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DOI: 10.1007/s00384-021-03983-x
Abstract: The carrier frequency of MUTYH pathogenic variants in the population may be as high as one in 45. Some studies have found an increased risk of colorectal cancer (CRC) in monoallelic carriers of MUTYH pathogenic… read more here.
Keywords: risk colorectal; pathogenic variants; carriers mutyh; mutyh pathogenic ... See more keywords
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
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DOI: 10.1530/eje-21-0713
Abstract: BACKGROUND AND OBJECTIVES CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia (IIH), a large… read more here.
Keywords: due cyp24a1; hypercalcemia due; cyp24a1; cyp24a1 variants ... See more keywords