Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C”

Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C”

Authors: Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard

Published: The Journal of Clinical Endocrinology & Metabolism (December 2020)

*ERN-RND member