We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleChildhood presentation of COL4A1 mutations.AuthorsShah, Siddharth; Ellard, Sian; Kneen, Rachel; Lim, Ming; Osborne, Nigel; Rankin, Julia; Stoodley, Neil; van der Knaap, Marjo; Whitney, Andrea; Jardine, PhilipAbstractTo describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.PublicationDevelopmental medicine and child neurology, 2012, Vol 54, Issue 6, p569ISSN1469-8749Publication typeJournal ArticleDOI10.1111/j.1469-8749.2011.04198.x