title: Clinical utility gene card for: Vici Syndrome.
authors.affiliation: DNA Laboratory, GSTS Pathology, Guy's Hospital, London, UK.
authors.forename: Thomas
authors.initials: T
authors.lastname: Cullup
authors.affiliation: Division of Metabolism, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.affiliation: 1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK.
authors.forename: Ay L
authors.initials: AL
authors.lastname: Kho
authors.affiliation: DNA Laboratory, GSTS Pathology, Guy's Hospital, London, UK.
authors.forename: Shu
authors.initials: S
authors.lastname: Yau
authors.affiliation: Department of Clinical Genetics, Guy's Hospital, London, UK.
authors.forename: Shehla
authors.initials: S
authors.lastname: Mohammed
authors.affiliation: 1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK.
authors.forename: Mathias
authors.initials: M
authors.lastname: Gautel
authors.affiliation: 1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, UK [3] Clinical Neuroscience Division, IoP, King's College, London, UK.
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D000071183:Autophagy-Related Proteins; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D051907:Lysosomal Membrane Proteins; D011506:Proteins / Q000235:genetics / Q000378:metabolism*; D033921:Vesicular Transport Proteins
chemical_list: D000951:Antigens, Neoplasm; D000071183:Autophagy-Related Proteins; C000592185:EPG5 protein, human; D051907:Lysosomal Membrane Proteins; D011506:Proteins; D033921:Vesicular Transport Proteins