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Article

Identification of the DNA repair defects in a case of Dubowitz syndrome.

PloS one - 1 Jan 2013

Yue Jingyin, Lu Huimei, Lan Shijie, Liu Jingmei, Stein Mark N, Haffty Bruce G, Shen Zhiyuan

Abstract excerpt

Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from...

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Identifiers

PMID: 23372718
DOI: 10.1371/journal.pone.0054389
PMCID: PMC3556036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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