Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Affiliations

• ¹ School of Medicine, Cardiff University, Cardiff, UK.
• ² Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
• ³ Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex.
• ⁴ Great Ormond Street Genetics.
• ⁵ Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, Great Ormond Street, London.
• ⁶ Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust.
• ⁷ Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Departments of.
• ⁸ Paediatric Neurology.
• ⁹ Paediatric Neuroradiology, Barts Health NHS Trust, The Royal Hospital, Whitechapel Road, London, UK.