Searchable abstracts of presentations at key conferences in endocrinology

ea0051oc5.7 | Oral Communications 5 | BSPED2017

The Phenotyping of Overgrowth (POD) Study: a novel ‘no win, no fee’ model for translating research findings into clinical diagnoses

Foster Alison , Antoniadi Thalia , Wallis Yvonne , Griffiths Mike , Lim Derek , Cole Trevor , Barrett Tim

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...