Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

TitleAnalyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Publication TypeJournal Article
AuthorsLessel, D, Ozel, ABilge, Campbell, SE, Saadi, A, Arlt, MF, McSweeney, KMelodi, Plaiasu, V, Szakszon, K, Szőllős, A, Rusu, C, Rojas, AJ, Lopez-Valdez, J, Thiele, H, Nürnberg, P, Nickerson, DA, Bamshad, MJ, Li, JZ, Kubisch, C, Glover, TW, Gordon, LB
PubMed ID30450527
Grant ListNWF 17/06/2-1 / / Universität Hamburg /
2UM1HG006493 / / National Human Genome Research Institute /