Concepedia

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Masahiko Satoda, Feng Zhao, George A. Díaz, John Burn, Judith Goodship, H. Rosemarie Davidson, Mary Ella Pierpont, Bruce D. Gelb

Nature Genetics · 2000 · 265 citations · 32 references

DOI

Concepts

References

32

Cardiac Malformation in Neonatal Mice Lacking Connexin43

Andrew G. Reaume, Paul A. De Sousa, Sarang Kulkarni et al. · Science · 1995 · 1.2K citations

, , +17

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson, David R. Bachinsky, Robert C. Lin et al. · Nature Genetics · 1997 · 1.1K citations

, , +16

Neural Crest Cells Contribute to Normal Aorticopulmonary Septation

Margaret L. Kirby, Thomas F. Gale, Donald Stewart · Science · 1983 · 1.1K citations

, , +17

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, Andrew R.J. Curtis et al. · Nature Genetics · 1997 · 929 citations

, , +8

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

Douglas J. Epstein, Michel Vekemans, Philippe Gros · Cell · 1991 · 663 citations

, , +14