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

S. Kantarci,L. Al-Gazali,R. Hill,D. Donnai,G. C. Black,E. Bieth,N. Chassaing,D. Lacombe,K. Devriendt,A. Teebi,M. Loscertales,C. Robson,Tianming Liu,D. Maclaughlin,K. Noonan,M. Russell,Christopher A. Walsh,Patricia K. Donahoe,B. Pober

Published 2007 in Nature Genetics

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