1. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Issue 7 (3rd May 2021) Authors: Halewa, Judith; Marouillat, Sylviane; Dixneuf, Manon; Thépault, Rose‐Anne; Ung, Dévina C.; Chatron, Nicolas; Gérard, Bénédicte; Ghoumid, Jamal; Lesca, Gaëtan; Till, Marianne; Smol, Thomas; Couque, Nathalie; Ruaud, Lyse; Chune, Valérie; Grotto, Sarah; Verloes, Alain; Vuillaume, Marie‐Laure; Toutai... Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 848 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗