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