%0 Journal Article %J Am J Med Genet A %D 2019 %T Delineating the expanding phenotype associated with SCAPER gene mutation. %A Fasham, James %A Arno, Gavin %A Lin, Siying %A Xu, Mingchu %A Carss, Keren J %A Hull, Sarah %A Lane, Amelia %A Robson, Anthony G %A Wenger, Olivia %A Self, Jay E %A Harlalka, Gaurav V %A Salter, Claire G %A Schema, Lynn %A Moss, Timothy J %A Cheetham, Michael E %A Moore, Anthony T %A Raymond, F Lucy %A Rui Chen %A Baple, Emma L %A Webster, Andrew R %A Crosby, Andrew H %K Adolescent %K Adult %K Carrier Proteins %K Child %K Consanguinity %K DNA Mutational Analysis %K Female %K Genetic Association Studies %K Genetic Predisposition to Disease %K Humans %K Male %K Middle Aged %K Mutation %K Pedigree %K Phenotype %K Young Adult %B Am J Med Genet A %V 179 %P 1665-1671 %8 2019 Aug %G eng %N 8 %1 https://www.ncbi.nlm.nih.gov/pubmed/31192531?dopt=Abstract %R 10.1002/ajmg.a.61202