PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include.
Parry DA, et al. Among authors: nagy a.
Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15.
Genes Dev. 2020.
PMID: 33060134
Free PMC article.