Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

@article{Gaudenz1998OpitzGS,
  title={Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.},
  author={Karin Gaudenz and Erich Roessler and Nandita A. Quaderi and Brunella Franco and Guillermina Feldman and David Gasser and B{\"a}rbel Wittwer and Jurgen Horst and Eugenio Montini and John M Opitz and Andrea Ballabio and Maximilian Muenke},
  journal={American journal of human genetics},
  year={1998},
  volume={63 3},
  pages={703-10}
}
The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene structure of the MID1 gene and have analyzed all nine exons for mutations in a set of 40 unrelated Opitz G/BBB patients. We now report six additional mutations all clustered in the… CONTINUE READING

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