Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleA novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia.AuthorsAljeaid, Deema; Lombardo, Rachel C.; Witte, David P.; Hopkin, Robert J.PublicationAmerican Journal of Medical Genetics. Part A, 2019, Vol 179, Issue 6, p1010ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.61018