Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Human Genetics
Lessel, Davor D; Ozel, Ayse Bilge AB; Campbell, Susan E SE; Saadi, Abdelkrim A; Arlt, Martin F MF; McSweeney, Keisha Melodi KM; Plaiasu, Vasilica V; Szakszon, Katalin K; Szőllős, Anna A; Rusu, Cristina C; Rojas, Armando J AJ; Lopez-Valdez, Jaime J; Thiele, Holger H; Nürnberg, Peter P; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Li, Jun Z JZ; Kubisch, Christian C; Glover, Thomas W TW; Gordon, Leslie B LB