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Article

DNA damage response defect in Williams-Beuren syndrome.

International journal of molecular medicine - 1 Mar 2017

Guenat David, Merla Giuseppe, Deconinck Eric, Borg Christophe, Rohrlich Pierre-Simon

Abstract excerpt

Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this...

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Source

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Identifiers

PMID: 28098859
DOI: 10.3892/ijmm.2017.2861
PMCID: PMC5360356

Genes

RFC2
ATR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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