title: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
authors.forename: Megan S
authors.initials: MS
authors.lastname: Kane
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA thierry.vilboux@inova.org.
authors.forename: Thierry
authors.initials: T
authors.lastname: Vilboux
authors.affiliation: 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA 3 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Lynne A
authors.initials: LA
authors.lastname: Wolfe
authors.affiliation: 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Paul R
authors.initials: PR
authors.lastname: Lee
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
authors.forename: Yupeng
authors.initials: Y
authors.lastname: Wang
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
authors.forename: Kathi C
authors.initials: KC
authors.lastname: Huddleston
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA.
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Vockley
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 5 Adjunct Professor Oncology, Johns Hopkins University School of Medicine, 733 North Broadway Street, Baltimore, Maryland 21205, USA.
authors.forename: John E
authors.initials: JE
authors.lastname: Niederhuber
authors.affiliation: 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D017398:Alternative Splicing; D002386:Cataract / Q000235:genetics*; D006801:Humans; D009154:Mutation