Clinical Spectrum of POLR3-related Leukodystrophy Caused by Biallelic POLR1C Pathogenic Variants
Laurence Gauquelin,Ferdy K. Cayami,Laszlo Sztriha,Grace Yoon,Luan T. Tran,Kether Guerrero, Francois Hocke,Rosalina M. L. van Spaendonk, Eva L. Fung,Stefano D'Arrigo,Gessica Vasco,Isabelle Thiffault,Dmitriy M. Niyazov,Richard Person,Kara Stuart Lewis,Evangeline Wassmer,Trine Prescott,Penny Fallon,Meriel McEntagart,Julia Rankin,Richard Webster,Heike Philippi,Bart van de Warrenburg,Dagmar Timmann,Abhijit Dixit,Claire Searle,Nivedita Thakur,Michael C. Kruer,Suvasini Sharma,Adeline Vanderver,Davide Tonduti,Marjo van der Knaap,Enrico Bertini,Cyril Goizet,Sebastien Fribourg,Nicole Wolf,Genevieve Bernard Neurology Genetics（2019）
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