PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

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Authors: David A. Parry, Lukas Tamayo-Orrego, Paula Carroll, Joseph A. Marsh, Philip Greene, Olga Murina, Carolina Uggenti, Andrea Leitch, Rita Káposzta, Gabriella Merő, Andrea Nagy, Brigitta Orlik, Balázs Kovács-Pászthy, Alan J. Quigley, Magdolna Riszter, Julia Rankin, Martin A.M. Reijns, Katalin Szakszon, Andrew P. Jackson

Journal title: Genes & Development

Journal number: 34/21-22

Journal publisher: Cold Spring Harbor Laboratory Press

Published year: 2020

Published pages: 1520-1533

DOI identifier: 10.1101/gad.340190.120

ISSN: 0890-9369