Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
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A. Toutain | A. Verloes | B. Gérard | M. Raynaud | S. Marouillat | F. Laumonnier | R. Thepault | M. Till | G. Lesca | N. Chatron | N. Couque | T. Smol | L. Ruaud | S. Grotto | M. Vuillaume | D. Ung | J. Ghoumid | Valérie Chune | Judith Halewa | Manon Dixneuf