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Dyskeratosis congenita: a genetic disorder of many faces.
Kirwan M, Dokal I. Kirwan M, et al. Clin Genet. 2008 Feb;73(2):103-12. doi: 10.1111/j.1399-0004.2007.00923.x. Epub 2007 Nov 14. Clin Genet. 2008. PMID: 18005359 Review.
It is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H …
It is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition t …
Molecular basis and therapy of disorders associated with chronic neutropenia.
Stein SM, Dale DC. Stein SM, et al. Curr Allergy Asthma Rep. 2003 Sep;3(5):385-8. doi: 10.1007/s11882-003-0071-0. Curr Allergy Asthma Rep. 2003. PMID: 12906773 Review.
Severe congenital neutropenia and cyclic neutropenia, both usually inherited as autosomal-dominant disorders, are caused by mutations in the neutrophil elastase gene. ...The molecular mechanisms for most acquired disorders causing neutropenia (eg, idiopathic neutrop …
Severe congenital neutropenia and cyclic neutropenia, both usually inherited as autosomal-dominant disorders, are caused by mu …