A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

C. Zweier,C. Kraus,L. Brueton,T. Cole,F. Degenhardt,H. Engels,G. Gillessen‐Kaesbach,L. Graul-Neumann,D. Horn,Juliane Hoyer,W. Just,A. Rauch,A. Reis,B. Wollnik,M. Zeschnigk,H. Lüdecke,D. Wieczorek

Published 2013 in Journal of Medical Genetics

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