Article
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.
Blood - 26 May 2011
Parry Erin M, Alder Jonathan K, Qi Xiaodong, Chen Julian J-L, Armanios Mary
Abstract excerpt
Mutations in the essential telomerase components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome characterized by mucocutaneous features. Some (~ 3%) sporadic aplastic anemia (AA) and idiopathic pulmonary fibrosis cases also carry mutations in hTERT and hTR. Even though it can affect clinical outcome, because the mutation frequency is rare, genetic testing is not standard. We examined...
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