Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep812 | Paediatric endocrinology | ECE2017

Microduplication of 15q26.3 not including IGF1R as a novel genetic cause of infantile overgrowth

De Schepper Jean , Libeert Denis , Callewaert Bert

Introduction: Recently, a microduplication of 15q26.3 not including IGF1R was reported in subjects of two families with overgrowth and variable intellectual disability (Leffler M. et al., Eur J Med Gen, 2016).Aim: To report the clinical findings in a third case with overgrowth related to a small microduplication of 15q26.3 not including the IGF1R region.Methods: Comparative genome hybridization was done using an A...