De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Valerie A. Arboleda,Hane Lee,N. Dorrani,N. Zadeh,M. Willis,Colleen F. Macmurdo,M. Manning,A. Kwan,L. Hudgins,F. Barthélémy,M. Miceli,F. Quintero-Rivera,S. Kantarci,Samuel P. Strom,Joshua L. Deignan,W. Grody,E. Vilain,Stanley F. Nelson

Published 2015 in American Journal of Human Genetics

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