Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Dyskeratosis 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 for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy a...
Alternative Titles
Full title
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a7605ac925f24192ae8f91adb84ad8d9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a7605ac925f24192ae8f91adb84ad8d9
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-018-0584-y
