Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleFurther expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).AuthorsSkidmore, David L.; Chitayat, David; Morgan, Tim; Hinek, Alek; Fischer, Bjoern; Dimopoulou, Aikaterini; Somers, Gino; Halliday, William; Blaser, Susan; Diambomba, Yenge; Lemire, Edmond G.; Kornak, Uwe; Robertson, Stephen P.PublicationAmerican Journal of Medical Genetics. Part A, 2011, Vol 155A, Issue 8, p1848ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.34057