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Article

The longest surviving child with Hoyeraal-Hreidarsson Syndrome.

Haematologica - 1 Sept 2004

Ozdemir Mehmet Akif, Karakukcu Musa, Kose Mehmet, Kumandas Sefer, Gumus Hakan

Abstract excerpt

We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in...

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PMID: 15377490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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