Articles with "dkc1 gene" as a keyword



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Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

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Published in 2018 at "BMC Medical Genetics"

DOI: 10.1186/s12881-018-0584-y

Abstract: BackgroundDyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared… read more here.

Keywords: variant; gene case; dkc1 gene; dyskeratosis congenita ... See more keywords