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Letter

Nature Genetics 40, 232–236 (1 February 2008) | doi:10.1038/ng.2007.80

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Elen Griffith , Sarah Walker , Carol-Anne Martin , Paola Vagnarelli , Tom Stiff , Bertrand Vernay , Nouriya Al Sanna , Anand Saggar , Ben Hamel , William C Earnshaw , Penny A Jeggo , Andrew P Jackson & Mark O'Driscoll

Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.