Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

Authors

Laurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, Valérie Cormier-Daire, Thierry Leblanc, Jean Soulier, Arturo Londono-Vallejo, Jean-Pierre de Villartay, Isabelle Callebaut, Patrick Revy