Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Hideyuki Takeuchi(University of Shizuoka), Robert S. Haltiwanger(University of Georgia), Hane Lee(Orion Corporation (United Kingdom)), Derek A. Wong(University of California, Los Angeles), Steven J. Berardinelli(University of Georgia), Megumi Takeuchi(University of Georgia), Stanley F. Nelson(University of California, Los Angeles), Atsuko Ito(University of Georgia), Michael Schneider(Stony Brook University), Hudson H. Freeze(Discovery Institute)
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