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Article

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.

The Journal of pediatrics - 1 Mar 2000

Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss N S, Poustka A, Eyaid W, Bodurtha J, Nousari H C, Hamosh A, Metzenberg A

Abstract excerpt

X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancyto...

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Source

Identifiers

PMID: 10700698
DOI: 10.1067/mpd.2000.104295

Genes

DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10700698-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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