Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Titel:
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Auteur:
Lessel, Davor Ozel, Ayse Bilge Campbell, Susan E. Saadi, Abdelkrim Arlt, Martin F. McSweeney, Keisha Melodi Plaiasu, Vasilica Szakszon, Katalin Szőllős, Anna Rusu, Cristina Rojas, Armando J. Lopez-Valdez, Jaime Thiele, Holger Nürnberg, Peter Nickerson, Deborah A. Bamshad, Michael J. Li, Jun Z. Kubisch, Christian Glover, Thomas W. Gordon, Leslie B.