Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

Marshall Lukacs, Jonathan Gilley, Yi Zhu, Giuseppe Orsomando, Carlo Angeletti, Jiaqi Liu, Xiuna Yang, Joun Park, Robert J. Hopkin, Michael P. Coleman, R. Grace Zhai, Rolf W. Stottmann

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Medicine & Life Sciences