OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

@article{Huber2010OBSL1MI,
  title={OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.},
  author={C{\'e}line Huber and M{\'e}lanie Fradin and Thomas Edouard and Martine F Le Merrer and Yasemin Alanay and Daniela Bezerra Da Silva and Albert David and Hanan A. Hamamy and Liselotte P van Hest and Allan Meldgaard Lund and Jacques L. Michaud and Christine Oley and Chirag Santosh Patel and Anna A Rajab and David L. Skidmore and Helen Stewart and Mait{\'e} Tauber and Arnold Munnich and Val{\'e}rie Cormier-Daire},
  journal={Human mutation},
  year={2010},
  volume={31 1},
  pages={20-6}
}
3-M syndrome is an autosomal recessive disorder characterized by severe pre- and postnatal growth retardation and minor skeletal changes. We have previously identified CUL7 as a disease-causing gene but we have also provided evidence of genetic heterogeneity in the 3-M syndrome. By homozygosity mapping in two inbred families, we found a second disease locus on chromosome 2q35-36.1 in a 5.2-Mb interval that encompasses 60 genes. To select candidate genes, we performed microarray analysis of… CONTINUE READING