Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report - Ratnasamy, Vithiya; Suganthan, N.; Sirisena, Nirmala Dushyanthi; Grüning, Nana-Maria; Brandau, Oliver; Kumanan, T.; Dagnall, Casey L.; McReynolds, Lisa J.; Savage, Sharon A.; Dissanayake, Vajira H.W. (My University, 2018)
Keywords: DKC1; Dyskeratosis congenita; Nail dystrophy; Oral leukoplakia; Pancytopenia; Skin pigmentation