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J Pediatr. 2000 Mar;136(3):390-3.

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.

Author information

1
Institute of Genetic Medicine and the Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-4922, USA.

Abstract

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 pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.

PMID:
10700698
DOI:
10.1067/mpd.2000.104295
[Indexed for MEDLINE]
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