Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clin Genet. 2013 Aug 29. [Epub ahead of print] PubMed PMID: 23992033.