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, Balazs Kovács-Pászthy, Alan J Quigley, Magdolna Riszter, Julia Rankin, Martin A M Reijns, Katalin Szakszon, Andrew P Jackson

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Biochemistry, Genetics and Molecular Biology