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Article

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

British journal of haematology - 1 Aug 2015

Glousker Galina, Touzot Fabien, Revy Patrick, Tzfati Yehuda, Savage Sharon A

Abstract excerpt

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology genes have been reported to cause HH in about 60% of the HH patients, but the genetic defects in the rest of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25940403
DOI: 10.1111/bjh.13442
PMCID: PMC4526362

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