Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Nat Genet 43:527-9 (2011)
DOI:10.1038/ng.822