Litcius/Paper detail

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane A. Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian R. Ozmore, Alessandro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Lévy, Agnès Guët, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux‐Boucher, Annick Raas‐Rothschild, Antonella Pini, Renée Carroll, Jessica N. Hartley, Kym M. Boycott, Michael Brudno, François P. Bernier, Clara D.M. van Karnebeek, David A. Dyment, Kristin D. Kernohan, A. Micheil Innes, Ryan E. Lamont, Jillian S. Parboosingh, Deborah A. Marshall, Christian R. Marshall, Roberto Mendoza‐Londono, James J. Dowling, Robin Z. Hayeems, Bartha Maria Knoppers, Anna Lehman, Sara Mostafavi, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Jennifer Y. Carroll, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gécz, Laurent Villard

2021European Journal of Human Genetics15 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationGeneticsPhenotypeBiologyDystoniaGeneNeuroscienceGenetics and Neurodevelopmental DisordersEndoplasmic Reticulum Stress and DiseaseGenomics and Rare Diseases