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

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...

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Bibliographic Details
Main Authors: Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage, Vajira H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
DKC1
Dyskeratosis congenita
Nail dystrophy
Oral leukoplakia
Pancytopenia
Skin pigmentation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0584-y

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