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