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

• Main Authors: Vithiya Ratnasamy (Author), Suganthan Navaneethakrishnan (Author), Nirmala Dushyanthi Sirisena (Author), Nana-Maria Grüning (Author), Oliver Brandau (Author), Kumanan Thirunavukarasu (Author), Casey L. Dagnall (Author), Lisa J. McReynolds (Author), Sharon A. Savage (Author), Vajira H. W. Dissanayake (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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...