Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Authors: Juha Paloneva, Tuula Manninen, Grant P. Christman, Karine Hovanes, Jami Mandelin, Rolf Adolfsson, Marino Muxfeldt Bianchin, Thomas D. Bird, Roxana Miranda, Andrea Salmaggi, Lisbeth Tranebjærg, Yrjö T. Konttinen, Leena Peltonen - The American Journal of Human Genetics 2002 cited by 700