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

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 features...

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Pubblicato in:BMC Med Genet
Autori principali: Ratnasamy, Vithiya, Navaneethakrishnan, Suganthan, Sirisena, Nirmala Dushyanthi, Grüning, Nana-Maria, Brandau, Oliver, Thirunavukarasu, Kumanan, Dagnall, Casey L., McReynolds, Lisa J., Savage, Sharon A., Dissanayake, Vajira H. W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5970516/
https://ncbi.nlm.nih.gov/pubmed/29801475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0584-y
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