Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Author(s):: Albers, C.A.; Paul, D.S.; Schulze, H.; Freson, K.; Stephens, J.C.; Smethurst, P.A.; Jolley, J.D.; Cvejic, A.; Kostadima, M.; Bertone, P.; Breuning, M.H. (0000-0002-8212-4319); Debili, N.; Deloukas, P.; Favier, R.; Fiedler, J.; Hobbs, C.M.; Huang, N.; Hurles, M.E.; Kiddle, G.; Krapels, I.; Nurden, P.; Ruivenkamp, C.A.L.; Sambrook, J.G.; Smith, K.; Stemple, D.L.; Strauss, G.; Thys, C.; Geet, C. van; Newbury-Ecob, R.; Ouwehand, W.H.; Ghevaert, C.