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Article

Identification of a novel mutation in DKC1 in dyskeratosis congenita.

Pediatric blood & cancer - 1 Jan 2009

Kurnikova Maria, Shagina Irina, Khachatryan Lilia, Schagina Olga, Maschan Mikchail, Shagin Dmitriy

Abstract excerpt

Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel...

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Source

Identifiers

PMID: 18802941
DOI: 10.1002/pbc.21733

Genes

DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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