Citations for
1DEL11QD, ETS1, HLHS2
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P.
Hum Mol Genet 19(4):648-56. Epub 2009 Nov 26. 2010
2DEL11QD, HLHS2, JAM3
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P.
Am J Med Genet A 149A(7):1438-43. 2009
3GJA1, HAND1, HLHS1, HLHS2, HLHS3, NKX2-5, NOTCH1
Hypoplastic left heart syndrome: new genetic insights.
Grossfeld P, Ye M, Harvey R.
J Am Coll Cardiol 53(12):1072-4. No abstract available. 2009
4FAVD1, FAVD2, HLHS1, HLHS2
Hypoplastic left heart syndrome is heritable.
Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW.
J Am Coll Cardiol 50(16):1590-5. Epub 2007 Oct 1. 2007
5DEL11QD, HLHS2, JAM3
Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.
Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI.
Genomics 79(4):475-8. 2002
6HLHS2
Possible genes for left heart formation on 11q23.3.
Guenthard J, et al.
Ann Genet 37 : 143-146. 1994