Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Bruno LP, Doddato G, Baldassarri M, Rizzo CL, Resciniti S, Bruttini M, Mirjam L, Zguro K, Furini S, Mencarelli MA, et al. Am J Med Genet A. 2023 Jan; 191(1):284-288. Epub 2022 Oct 9.