X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1
Read full paper at: http://www.scirp.org/journal/PaperInformation.aspx?PaperID=51002#.VFHVJFfHRK0 Author(s) David J. Bunyan 1,2 , David O. Robinson 1,2 , Anthony G. Tyers 3 , Shuwen Huang 4 , Vivienne K. Maloney 1 , Francis H. Grand 2 , Sarah Ennis 5 , Samantha R. de Silva 6 , John A. Crolla 1,2 , Tristan F. W. McMullan 7 Affiliation(s) 1 Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK . 2 Human Genetics Division, Southampton University School of Medicine, Southampton, UK . 3 Ophthalmology Department, Salisbury District Hospital, Salisbury, UK . 4 Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester, UK . 5 Genetic Epidemiology and Genomic Informatics Group, Faculty of Medicine, University of Southampton,Southampton, UK . 6 ...