PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Equipe GAD Aymeric Masson,1 Julien Paccaud,1 Martina Orefice,2 Estelle Colin,1 Outi Mäkitie,3 Valérie Cormier-Daire,4 Raissa Relator,5 Sourav Ghosh,5 Jean-Marc Strub,6 Christine Schaeffer-Reiss,6 Carlo Marcelis,7 David A. Koolen,7 Rolph Pfundt,8 Elke de Boer,7 Lisenka E.L.M. Vissers,7 Thatjana Gardeitchik,8 Lonneke A.M. Aarts,9 Tuula Rinne,7 Paulien A. Terhal,10 Nienke E. Verbeek,10 Linda C. Zuurbier,11 Astrid S. Plomp,12 Marja … Lire la suite