Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nandita A. Quaderi, Susann Schweiger, Karin Gaudenz, Brunella Franco, Elena I. Rugarli, Wolfgang Berger, George J. Feldman, Manuela Volta, Grazia Andolfi, S. Gilgenkrantz, Robert W. Marion, Raoul C.M. Hennekam, John M. Opitz, Maximilian Muenke, H. Hilger Ropers, Andrea Ballabio

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Biochemistry, Genetics and Molecular Biology

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Pharmacology, Toxicology and Pharmaceutical Science

Medicine and Dentistry