BIALLELIC LOSS OF FUNCTION MUTATIONS IN NMNAT2 CAUSE PRENATAL CONTRACTURES, HYDROPS, BRAIN AND CRANIOFACIAL ABNORMALITIES

R. J. Hopkin, M. Lukacs, J. Gilley,Y. Zhu,G. Orsomando, C. Angeletti, J. Liu, J. Park,M. Coleman,G. Zhai,D. Witte,R. W. Stottmann

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2020)

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