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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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21436073
DOI: 10.1182/blood-2010-11-322149
PMCID: PMC3110022

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21436073-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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