Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A

Albers, CA; Paul, DS; Schulze, H; Freson, Kathleen; 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, CAL; Sambrook, JG; Smith, K; Stemple, DL; Strauss, G; Thys, C; Van Geet, Chris; Newbury-Ecob, R; Ouwehand, WH; Ghevaert, C

British Journal of Haematology

Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A

Author:

Albers, CA

Paul, DS ; Schulze, H ; Freson, Kathleen ; 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, CAL ; Sambrook, JG ; Smith, K ; Stemple, DL ; Strauss, G ; Thys, C ; Van Geet, Chris ; Newbury-Ecob, R ; Ouwehand, WH ; Ghevaert, C

Keywords:

Science & Technology, Life Sciences & Biomedicine, Hematology, 1102 Cardiorespiratory Medicine and Haematology, Immunology, 3201 Cardiovascular medicine and haematology

British Journal of Haematology Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A

Author:

Keywords:

British Journal of Haematology

Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A