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A patient with a novel CNTNAP2 homozygous variant

further delineation of the CASPR2 deficiency syndrome and review of the literature

Riccardi, Florencea,b; Urquhart, Jillb,c; McCullagh, Garyd; Lawrence, Petere; Douzgou, Sofiab,c

doi: 10.1097/MCD.0000000000000259
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aMedical Genetics Department, La Timone Hospital, Marseilles Public University Hospital, Marseilles, France

bManchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre

cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester

dDepartment of Paediatric Neurology, Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre

eSchool of Science and the Environment, Manchester Metropolitan University, Manchester, UK

Correspondence to Sofia Douzgou, MD, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Oxford Road, Manchester M13 9WL, UK Tel: +44 161 276 6268; fax: +44 161 276 6145; e-mail: sofia.douzgou@mft.nhs.uk

Received December 19, 2018

Accepted January 3, 2019

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