Identification of mutations in CUL7 in 3-M syndrome

  title={Identification of mutations in CUL7 in 3-M syndrome},
  author={C{\'e}line Huber and Dora C Dias-Santagata and Anna Glaser and James O'Sullivan and Raja Brauner and Kenneth Q Wu and Xinsong Xu and Kerra Pearce and Rong Wang and Maria Luisa Giovannucci Uzielli and Nathalie Dagoneau and Wassim Chemaitilly and Andrea Superti-Furga and Heloisa Oliveira dos Santos and Andr{\'e} M{\'e}garban{\'e} and Gilles Morin and G Gillessen-kaesbach and Raoul C.M Hennekam and Ineke van der Burgt and Graeme C. M. Black and Peter E Clayton and Andrew Read and Martine Le Merrer and Peter J. Scambler and Arnold Munnich and Zhen-qiang Pan and Robin Winter and Val{\'e}rie Cormier-Daire},
  journal={Nature Genetics},
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and… CONTINUE READING
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