Scientific Publication 

Dyskeratosis Congenita with a Novel Variant in the DKC1 Gene

Author(s): Brandau, Oliver, MD, Grüning, Nana-Maria, Ratnasamy, V, Navaneethakrishnan, S, Sirisena, ND, Thirunavukarasu, K, Dagnall, CL, Savage, SA, Dissanayake, VHW

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.

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.


Read publication (PDF)