De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
赖氨酸乙酰转移酶基因 KAT6A 的新生无义突变可导致包括小头畸形和整体发育迟缓在内的综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.01.017
Valerie A Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Forsyth Macmurdo, Melanie A Manning, Andrea Kwan, Louanne Hudgins, Florian Barthelemy, M Carrie Miceli, Fabiola Quintero-Rivera, Sibel Kantarci, Samuel P Strom, Joshua L Deignan; UCLA Clinical Genomics Center; Wayne W Gr
