title: Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
authors.affiliation: 1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Susan
authors.initials: S
authors.lastname: Byrne
authors.affiliation: 2 Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors.forename: Thomas
authors.initials: T
authors.lastname: Cullup
authors.affiliation: 3 Department of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK.
authors.forename: Manolis
authors.initials: M
authors.lastname: Fanto
authors.affiliation: 4 Randall Division of Cell and Molecular Biophysics, King's College London, British Heart Foundation Centre of Excellence, London, UK 5 Cardiovascular Division, King's College London, British Heart Foundation Centre of Excellence, London, UK.
authors.forename: Mathias
authors.initials: M
authors.lastname: Gautel
authors.affiliation: 1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK 3 Department of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK 4 Randall Division of Cell and Molecular Biophysics, King's College London, British Heart Foundation Centre of Excellence, London, UK Heinz.Jungbluth@gstt.nhs.uk.
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D006801:Humans; D009154:Mutation