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Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway

20 Oct 2004

Abstract excerpt

To date, the only reported genetic defect identified in the developmental disorder, Seckel syndrome, is a mutation in ataxia telangiectasia and Rad3-related protein (ATR). Seckel syndrome is clinically and genetically heterogeneous and whether defects in ATR significantly contribute to Seckel syndrome is unclear. Firstly, we characterize ATR-Seckel cells for their response to DNA damage. ATR-Seckel cells display...

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PMID: 15496423
DOI: 10.1093/hmg/ddh335

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