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Items: 3

Select item 30838351.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. Richard O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola K. Ragge

Hum Genet. Author manuscript; available in PMC 2011 Apr 28.

Published in final edited form as: Hum Genet. 2009 Dec; 126(6): 791–803. doi: 10.1007/s00439-009-0730-x

PMCID:: PMC3083835

Abstract Article PDF–1.3M

Select item 24272432.

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin

Am J Hum Genet. 2008 May 9; 82(5): 1171–1177. Published online 2008 May 2. doi: 10.1016/j.ajhg.2008.03.005