Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleRecessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.AuthorsNatera‐de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai‐Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hunter, David G.; Feng, Lucy; Ledoux, Danielle; O'Donnell‐Luria, AnnePublicationHuman Mutation, 2022, Vol 43, Issue 4, p487ISSN1059-7794Publication typeArticleDOI10.1002/humu.24333