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

ALBERS, Cornelis A ; PAUL, Dirk S ; BREUNING, Martijn H ; DEBILI, Najet ; DELOUKAS, Panos ; FAVIER, Rémi ; FIEDLER, Janine ; HOBBS, Catherine M ; NI HUANG ; HURLES, Matthew E ; KIDDLE, Graham ; KRAPELS, Ingrid ; SCHULZE, Harald ; NURDEN, Paquita ; RUIVENKAMP, Claudia A. L ; SAMBROOK, Jennifer G ; SMITH, Kenneth ; STEMPLE, Derek L ; STRAUSS, Gabriele ; THYS, Chantal ; GEET, Chrisvan ; NEWBURY-ECOB, Ruth ; OUWEHAND, Willemh ; FRESON, Kathleen ; GHEVAERT, Cedric ; STEPHENS, Jonathan C ; SMETHURST, Peter A ; JOLLEY, Jennifer D ; CVEJIC, Ana ; KOSTADIMA, Myrto ; BERTONE, Paul

Nature genetics, 2012-04, Vol.44 (4), p.435-439 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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