Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleDe novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.AuthorsPenon‐Portmann, Monica; Eldomery, Mohammad K.; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M.; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R.; Shieh, Joseph T.PublicationAmerican Journal of Medical Genetics. Part A, 2022, Vol 188, Issue 8, p2360ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.62872