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Microcephalin: A Causal Link Between Impaired Damage Response Signalling and Microcephaly

4 Oct 2006

Abstract excerpt

Seckel Syndrome (SS) and Primary Microcephaly (MCPH) are disorders exhibiting marked microcephaly with a head circumference less than three standard deviations below the mean. ATR-Seckel Syndrome is conferred by mutations in ataxia and telangiectasia and Rad3 related (ATR), a kinase that activates a DNA damage signalling response. Cell lines from additional SS patients, who are normal for ATR, show defective ATR...

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PMID: 17102619
DOI: 10.4161/cc.5.20.3358

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