Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Louise S Bicknell, Sarah Walker, Anna Klingseisen, Tom Stiff, Andrea Leitch, Claudia Kerzendorfer, Carol-Anne Martin, Patricia Yeyati, Nouriya Al Sanna, Michael Bober, Diana Johnson, Carol Wise, Andrew P Jackson, Mark O'Driscoll & Penny A Jeggo

Nature Genetics 43, 350–355 (2011)