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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome David A. Parry,Lukas Tamayo-Orrego, Paula Carroll, Joseph A. Marsh, Philip Greene, Olga Murina, Carolina Uggenti,Andrea Leitch, The Scottish Genomes Partnership, Rita Káposzta, Gabriella Merő, Andrea Nagy, Brigitta Orlik, Balázs Kovács-Pászthy, Alan J. Quigley,Magdolna Riszter, Julia Rankin, Martin A.M. Reijns, Katalin Szakszon, and Andrew P. Jackson GENES & DEVELOPMENT 34:1520–1533
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