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

• Auteurs principaux: Vithiya Ratnasamy (Auteur), Suganthan Navaneethakrishnan (Auteur), Nirmala Dushyanthi Sirisena (Auteur), Nana-Maria Grüning (Auteur), Oliver Brandau (Auteur), Kumanan Thirunavukarasu (Auteur), Casey L. Dagnall (Auteur), Lisa J. McReynolds (Auteur), Sharon A. Savage (Auteur), Vajira H. W. Dissanayake (Auteur)
• Format: Livre
• Publié: BMC, 2018-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...