P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Laurence Gauquelin(National Institute of Child Health), Abhijit Dixit(Nottingham City Hospital), LT Tran, Geneviève Bernard(McGill University), Gessica Vasco(Bambino Gesù Children's Hospital), Adeline Vanderver(Children's Hospital of Philadelphia), RM van Spaendonk(Amsterdam University of Applied Sciences), Suvasini Sharma(University of Delhi), Richard Webster(Children's Hospital at Westmead), DM Niyazov(University of New Orleans), Isabelle Thiffault(Children's Mercy Hospital), B van de Warrenburg, FK Cayami(Universitas Semarang), Davide Tonduti, MS van der Knaap(Amsterdam University of Applied Sciences), Penny Fallon(St George’s University Hospitals NHS Foundation Trust), 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), EL Fung, Dagmar Timmann(University of Duisburg-Essen), Stefano D’Arrigo(Areté Associates (United States)), Heike Philippi(Montreal Children's Hospital), Lewis Ks(Phoenix (United States)), Meriel McEntagart(St George's, University of London), Sébastien Fribourg(Montreal Children's Hospital), MC Kruer(Tempe Union High School District), F Hocke, Kether Guerrero(National Institute of Child Health), Evangeline Wassmer(Birmingham Children's Hospital), Trine Prescott(Telemark Hospital), NI Wolf(Amsterdam University of Applied Sciences), Richard Person(GenVec), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), László Sztriha(University of Szeged), Nivedita Thakur
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
June 1, 2019
Cited by 0


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