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

Sibel Kantarci(Massachusetts General Hospital), Lihadh Al‐Gazali(United Arab Emirates University), R. Sean Hill(Harvard University), Dian Donnai(St Mary's Hospital), Graeme C. Black(St Mary's Hospital), Éric Bieth(Hôpital Purpan), Nicolas Chassaing(Hôpital Purpan), Didier Lacombe(Centre Hospitalier Universitaire de Bordeaux), Koenraad Devriendt(KU Leuven), Ahmad S. Teebi(Weill Cornell Medical College in Qatar), Marı́a Loscertales(Massachusetts General Hospital), Caroline D. Robson(Boston Children's Hospital), Tianming Liu(Harvard University), David T. MacLaughlin(Harvard University), Kristin Noonan(Massachusetts General Hospital), Meaghan Russell(Massachusetts General Hospital), Christopher A. Walsh(Beth Israel Deaconess Medical Center), Patricia K. Donahoe(Harvard University), Barbara R. Pober(Boston Children's Hospital)
Nature Genetics
July 15, 2007
Cited by 318Open Access
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