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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

  • Sibel Kantarci
  • , Lihadh Al-Gazali
  • , R. Sean Hill
  • , Dian Donnai
  • , Graeme C.M. Black
  • , Eric Bieth
  • , Nicolas Chassaing
  • , Didier Lacombe
  • , Koen Devriendt
  • , Ahmad Teebi
  • , Maria Loscertales
  • , Caroline Robson
  • , Tianming Liu
  • , David T. MacLaughlin
  • , Kristin M. Noonan
  • , Meaghan K. Russell
  • , Christopher A. Walsh
  • , Patricia K. Donahoe
  • , Barbara R. Pober

Research output: Contribution to journalArticlepeer-review

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