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Article

A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.

BMC medical genetics - 7 Mar 2018

Shao Yingqi, Feng Sizhou, Huang Jinbo, Huo Jiali, You Yahong, Zheng Yizhou

Abstract excerpt

BACKGROUND: Dyskeratosis congenita (DC) is an inherited telomeropathy characterized by mucocutaneous dysplasia, bone marrow failure, cancer predisposition, and other somatic abnormalities. Cells from patients with DC exhibit short telomere. The genetic basis of the majority of DC cases remains unknown. METHODS: A 2 generational Chinese Han family with DC was studied using targeted capture and next-generation...

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Identifiers

PMID: 29514627
DOI: 10.1186/s12881-018-0549-1
PMCID: PMC5842585

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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