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A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia

Menzies, Laraa; Cullup, Tomc; Calder, Alistairb; Wilson, Louisea; Faravelli, Francescaa

doi: 10.1097/MCD.0000000000000291
Short Case Reports

Departments of aClinical Genetics

bRadiology, Great Ormond Street Hospital

cMolecular Genetics, North East Thames Regional Genetics Service Laboratory, London, UK

Received 27 March 2019 Accepted 16 May 2019

Correspondence to Lara Menzies, MB BChir, MRCPCH, PhD, Department of Clinical Genetics, Great Ormond Street Hospital, London, UK, Tel: +44(0) 207 762 6096; e-mail:

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