A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature

Clin Dysmorphol. 2019 Apr;28(2):66-70. doi: 10.1097/MCD.0000000000000259.

Florence Riccardi^{1

2}, Jill Urquhart^{2

3}, Gary McCullagh⁴, Peter Lawrence⁵, Sofia Douzgou^{2

3}

¹ Medical Genetics Department, La Timone Hospital, Marseilles Public University Hospital, Marseilles, France.
² Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.
³ School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester.
⁴ Department of Paediatric Neurology, Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre.
⁵ School of Science and the Environment, Manchester Metropolitan University, Manchester, UK.

No abstract available

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