Presented here is the first case of radial aplasia in a patient with CHARGE syndrome due to a novel frameshift mutation of CHD7.
Kerr, Radial aplasia in CHARGE syndrome: A new association, European Journal of Medical Genetics, 52, 4, (239), (2009). W.S. Layman, D.P. McEwen, L.A. Beyer, S.R.
aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia Retinoic acid embryopathy Robinow syndrome Robinson nail dystrophy-deafness syndrome