Articles with "dicer1 carriers" as a keyword



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Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study

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Published in 2018 at "Pediatric Nephrology"

DOI: 10.1007/s00467-018-4040-1

Abstract: BackgroundThe DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural… read more here.

Keywords: dicer1; dicer1 carriers; family controls; dicer1 syndrome ... See more keywords
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Hematologic indices in individuals with pathogenic germline DICER1 variants.

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Published in 2021 at "Blood advances"

DOI: 10.1182/bloodadvances.2020002651

Abstract: Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic stem cell progenitors demonstrate hematologic aberrations that include reductions in red and white blood… read more here.

Keywords: dicer1 variants; dicer1; dicer1 carriers; hematologic indices ... See more keywords