Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

Laurence Gauquelin(National Institute of Child Health), Geneviève Bernard(McGill University), Nivedita Thakur(Montreal Children's Hospital), Gessica Vasco(Bambino Gesù Children's Hospital), Adeline Vanderver(Children's Hospital of Philadelphia), Suvasini Sharma(University of Delhi), Richard Webster(Children's Hospital at Westmead), Kara Stuart Lewis(Montreal Children's Hospital), Isabelle Thiffault(Children's Mercy Hospital), Nicole I. Wolf(Emma Kinderziekenhuis), Davide Tonduti, Penny Fallon(St George’s University Hospitals NHS Foundation Trust), Michael C. Kruer(Barrow Neurological Institute), Claire Searle(Nottingham University Hospitals NHS Trust), Grace Yoon(Université du Québec à Montréal), Cyril Goizet(Centre National de la Recherche Scientifique), Enrico Bertini(Bambino Gesù Children's Hospital), Dagmar Timmann(University of Duisburg-Essen), Stefano D’Arrigo(Areté Associates (United States)), Luan T. Tran(Medicago (Canada)), Heike Philippi(Montreal Children's Hospital), Marjo S. van der Knaap(Amsterdam Neuroscience), Meriel McEntagart(St George's, University of London), Sébastien Fribourg(Montreal Children's Hospital), Ferdy Kurniawan Cayami(Montreal Children's Hospital), François Hocke(Montreal Children's Hospital), Kether Guerrero(National Institute of Child Health), Evangeline Wassmer(Birmingham Children's Hospital), Trine Prescott(Telemark Hospital), Dmitriy Niyazov(Montreal Children's Hospital), Bart van de Warrenburg(Radboud University Nijmegen), Eva Fung(Montreal Children's Hospital), Richard Person(GenVec), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), László Sztriha(University of Szeged), Rosalina M.L. van Spaendonk(Amsterdam UMC Location Vrije Universiteit Amsterdam), Abhijit Dixit(Nottingham City Hospital)
Neurology Genetics
October 31, 2019
Cited by 51


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