Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

@article{Bicknell2011MutationsIT,
  title={Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome},
  author={L. Bicknell and E. Bongers and A. Leitch and S. Brown and J. Schoots and Margaret E. Harley and S. Aftimos and J. Al-Aama and M. Bober and P. Brown and H. van Bokhoven and J. Dean and Alaa Y. Edrees and M. Feingold and A. Fryer and L. Hoefsloot and N. Kau and N. Knoers and J. Mackenzie and J. Opitz and P. Sarda and A. Ross and I. K. Temple and A. Toutain and C. Wise and M. Wright and A. Jackson},
  journal={Nature genetics},
  year={2011},
  volume={43},
  pages={356 - 359}
}
  • L. Bicknell, E. Bongers, +24 authors A. Jackson
  • Published 2011
  • Biology, Medicine
  • Nature genetics
  • Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6… CONTINUE READING
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