Article
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Nature genetics - 27 Feb 2011
Bicknell Louise S, Walker Sarah, Klingseisen Anna, Stiff Tom, Leitch Andrea, Kerzendorfer Claudia, Martin Carol-Anne, Yeyati Patricia, Al Sanna Nouriya, Bober Michael, Johnson Diana, Wise Carol, Jackson Andrew P, O'Driscoll Mark, Jeggo Penny A
Abstract excerpt
Studies into disorders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular processes of DNA damage response signaling and centrosome function in the regulation of human growth. Here we report that m...
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