Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers 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 C.
Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.
PMID:22366785
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Strauss G, Mott K, Klopocki E, Schulze H.
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.
PMID:37611607
Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?
Bonsi L, Marchionni C, Alviano F, Lanzoni G, Franchina M, Costa R, Grossi A, Bagnara GP.
Exp Hematol. 2009 Jan;37(1):1-7. doi: 10.1016/j.exphem.2008.09.004. Epub 2008 Nov 22.
PMID:19028006
Thrombocytopenia Absent Radius Syndrome.
Petit F, Boussion S.
2009 Dec 8 [updated 2023 Nov 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301781
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C.