We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleCompound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.AuthorsAlbers CA; Paul DS; Schulze H; Freson K; Stephens JC; Smethurst PA; Jolley JD; Cvejic A; Kostadima M; Bertone P; Breuning MH; Debili N; Deloukas P; Favier R; Fiedler J; Hobbs CM; Huang N; Hurles ME; Kiddle G; Krapels I; Nurden P; Ruivenkamp CA; Sambrook JG; Smith K; Stemple DL; Strauss G; Thys C; van Geet C; Newbury-Ecob R; Ouwehand WH; Ghevaert CPublicationNature genetics, 2012, Vol 44, Issue 4, p435ISSN1546-1718Publication typearticleDOI10.1038/ng.1083